ClinVar Genomic variation as it relates to human health
NM_000059.4(BRCA2):c.5645C>A (p.Ser1882Ter)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_000059.4(BRCA2):c.5645C>A (p.Ser1882Ter)
Variation ID: 37984 Accession: VCV000037984.78
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 13q13.1 13: 32340000 (GRCh38) [ NCBI UCSC ] 13: 32914137 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Sep 27, 2014 May 12, 2024 Apr 22, 2016 - HGVS
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Nucleotide Protein Molecular
consequenceNM_000059.4:c.5645C>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000050.3:p.Ser1882Ter nonsense NC_000013.11:g.32340000C>A NC_000013.10:g.32914137C>A NG_012772.3:g.29521C>A LRG_293:g.29521C>A LRG_293t1:c.5645C>A LRG_293p1:p.Ser1882Ter U43746.1:n.5873C>A - Protein change
- S1882*
- Other names
- p.S1882*:TCA>TAA
- 5873C>A
- Canonical SPDI
- NC_000013.11:32339999:C:A
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
- functional variant Sequence Ontology [SO:0001536]
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Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Exome Aggregation Consortium (ExAC) 0.00002
The Genome Aggregation Database (gnomAD), exomes 0.00002
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
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BRCA2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
18734 | 18892 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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Pathogenic (12) |
reviewed by expert panel
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Apr 22, 2016 | RCV000031565.26 | |
Pathogenic (9) |
criteria provided, multiple submitters, no conflicts
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Mar 1, 2023 | RCV000044705.43 | |
Pathogenic (3) |
criteria provided, multiple submitters, no conflicts
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Jan 16, 2024 | RCV000131114.22 | |
Pathogenic (5) |
criteria provided, multiple submitters, no conflicts
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Jan 28, 2024 | RCV000167830.25 | |
Pathogenic (1) |
criteria provided, single submitter
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Nov 1, 2015 | RCV000240722.9 | |
Pathogenic (3) |
criteria provided, multiple submitters, no conflicts
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Oct 16, 2023 | RCV000585709.12 | |
Pathogenic (3) |
criteria provided, single submitter
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Mar 17, 2017 | RCV000735569.12 | |
Pathogenic (1) |
no assertion criteria provided
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Dec 1, 2018 | RCV000785224.10 | |
Pathogenic (1) |
criteria provided, single submitter
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Mar 26, 2019 | RCV001002489.15 | |
Pathogenic (1) |
no assertion criteria provided
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Apr 15, 2020 | RCV001281099.9 | |
Pathogenic (1) |
criteria provided, single submitter
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Dec 10, 2021 | RCV001799612.9 | |
Pathogenic (1) |
criteria provided, single submitter
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Apr 8, 2022 | RCV002496484.8 | |
Pathogenic (1) |
no assertion criteria provided
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Jul 1, 2021 | RCV003162274.8 | |
not provided (1) |
no classification provided
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- | RCV003483439.1 | |
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Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Pathogenic
(Apr 22, 2016)
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reviewed by expert panel
Method: curation
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Breast-ovarian cancer, familial, susceptibility to, 2
Affected status: unknown
Allele origin:
germline
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Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)
Accession: SCV000282410.1
First in ClinVar: Jun 24, 2016 Last updated: Jun 24, 2016 |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
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Pathogenic
(Sep 21, 2015)
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criteria provided, single submitter
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 2
Affected status: yes
Allele origin:
germline
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Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
Study: VKGL Data-share Consensus
Accession: SCV000744472.1 First in ClinVar: Apr 19, 2018 Last updated: Apr 19, 2018 |
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Pathogenic
(Jan 01, 2020)
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criteria provided, single submitter
Method: clinical testing
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Hereditary Breast Carcinoma
Affected status: yes
Allele origin:
germline
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GeneKor MSA
Accession: SCV000693572.2
First in ClinVar: Mar 04, 2018 Last updated: Apr 24, 2020 |
Comment:
This variant is a single amino acid change from Serine to a Termination codon at amino acid residue 1882 of the BRCA2 gene. It is … (more)
This variant is a single amino acid change from Serine to a Termination codon at amino acid residue 1882 of the BRCA2 gene. It is expected to result in a truncated, non-functional protein. Truncating variants in the BRCA2 gene are known to be pathogenic. This variant is also known as 5873C>A in the literature and has been described in patients and families with breast, ovarian and prostate cancer (PMID: 22144684, 22535016, 22666503, 21952622, 15024741). The mutation database ClinVar contains entries for this variant (Variation ID: 37984). (less)
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Pathogenic
(Sep 04, 2019)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
germline
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Clinical Genetics and Genomics, Karolinska University Hospital
Accession: SCV001450433.1
First in ClinVar: Dec 12, 2020 Last updated: Dec 12, 2020 |
Number of individuals with the variant: 2
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Pathogenic
(Oct 02, 2015)
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criteria provided, single submitter
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 2
Affected status: unknown
Allele origin:
germline
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Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge
Accession: SCV000327251.4
First in ClinVar: Nov 05, 2016 Last updated: Dec 11, 2022 |
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Pathogenic
(Jul 29, 2022)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: not provided
Allele origin:
germline
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Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden
Accession: SCV004026115.1
First in ClinVar: Aug 19, 2023 Last updated: Aug 19, 2023 |
Comment:
PVS1, PS4, PM2_SUP
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Pathogenic
(Oct 16, 2023)
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criteria provided, single submitter
Method: clinical testing
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Familial cancer of breast
Affected status: unknown
Allele origin:
unknown
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Baylor Genetics
Accession: SCV004211865.1
First in ClinVar: Dec 30, 2023 Last updated: Dec 30, 2023 |
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Pathogenic
(Aug 07, 2021)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
unknown
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Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV000600653.5
First in ClinVar: Oct 09, 2016 Last updated: Jan 06, 2024 |
Comment:
This nonsense variant causes the premature termination of BRCA2 protein synthesis. In addition, it has been reported in individuals with breast or prostate cancer in … (more)
This nonsense variant causes the premature termination of BRCA2 protein synthesis. In addition, it has been reported in individuals with breast or prostate cancer in the published literature (PMID: 33918338 (2020), 27433846 (2016) and 22666503 (2012)). Based on the available information, this variant is classified as pathogenic. (less)
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Pathogenic
(Mar 28, 2022)
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criteria provided, single submitter
Method: clinical testing
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
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Ambry Genetics
Accession: SCV000186044.8
First in ClinVar: Aug 06, 2014 Last updated: May 01, 2024 |
Comment:
The p.S1882* pathogenic mutation (also known as c.5645C>A), located in coding exon 10 of the BRCA2 gene, results from a C to A substitution at … (more)
The p.S1882* pathogenic mutation (also known as c.5645C>A), located in coding exon 10 of the BRCA2 gene, results from a C to A substitution at nucleotide position 5645. This changes the amino acid from a serine to a stop codon within coding exon 10. This mutation has been reported in an individual diagnosed with triple negative breast cancer at age 37 (Meyer P et al. PLoS One. 2012 May;7:e38361), in two individuals with ovarian cancer (Sakomoto I et al. Cancer. 2016 Jan;122:84-90), and in a family with multiple cases of breast cancer (Verhoog LC et al. J. Clin. Oncol. 1999 Nov;17:3396-402). In another study, this alteration was reported as an Eastern European founder mutation (Caputo S et al. Nucleic Acids Res. 2012 Jan;40:D992-1002). This mutation has also been detected in a cohort of affected patients meeting genetic testing criteria for HBOC (Meisel C et al. Arch. Gynecol. Obstet. 2017 May;295:1227-1238), a cohort of patients with metastatic prostate cancer (Pritchard CC et al. N. Engl. J. Med. 2016 Aug;375:443-53), as well as in multiple cohorts of unselected breast cancer patients (Sun J et al. Clin. Cancer Res. 2017 Oct;23:6113-6119; Zhong X et al. PLoS ONE. 2016 Jun;11:e0156789). In a large, clinic-based BRCA1/2 testing cohort in Norway, this variant was detected in 7 members of one family (Heramb C et al. Hered. Cancer Clin. Pract. 2018 Jan;16:3). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. (less)
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Pathogenic
(Nov 01, 2015)
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criteria provided, single submitter
Method: research
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Breast neoplasm
Affected status: yes
Allele origin:
germline
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Laboratory of Molecular Diagnosis of Cancer, West China Hospital, Sichuan University
Additional submitter:
Asia and Emerging Markets iMed, AstraZeneca
Accession: SCV000265907.1
First in ClinVar: Sep 14, 2016 Last updated: Sep 14, 2016 |
Number of individuals with the variant: 2
Geographic origin: China
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Pathogenic
(Oct 08, 2014)
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criteria provided, single submitter
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 2
Affected status: yes
Allele origin:
germline
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Genome Diagnostics Laboratory, University Medical Center Utrecht
Study: VKGL Data-share Consensus
Accession: SCV000743309.1 First in ClinVar: Apr 19, 2018 Last updated: Apr 19, 2018 |
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Pathogenic
(Mar 17, 2017)
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criteria provided, single submitter
Method: clinical testing
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Breast and/or ovarian cancer
Affected status: unknown
Allele origin:
germline
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CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario
Study: Canadian Open Genetics Repository
Accession: SCV000902206.1 First in ClinVar: May 06, 2019 Last updated: May 06, 2019 |
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Pathogenic
(Jan 17, 2018)
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criteria provided, single submitter
Method: clinical testing
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Hereditary breast ovarian cancer syndrome
(Autosomal dominant inheritance)
Affected status: not provided
Allele origin:
germline
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Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
Accession: SCV000967739.1
First in ClinVar: Aug 26, 2019 Last updated: Aug 26, 2019 |
Comment:
The p.Ser1882X variant in BRCA2 has been reported in >60 individuals with BRCA2- associated cancers and segregated with disease in 2 affected relatives from 2 … (more)
The p.Ser1882X variant in BRCA2 has been reported in >60 individuals with BRCA2- associated cancers and segregated with disease in 2 affected relatives from 2 fa milies (Caputo 2012, De Silva 2017, Heidemann2012, Rebbeck 2016, Reid 2005). Thi s variant has also been identified in 1/17202 East Asian and 2/110946 European c hromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstit ute.org; dbSNP rs80358785). This nonsense variant leads to a premature terminati on codon at position 1882, which is predicted to lead to a truncated or absent p rotein. Heterozygous loss of function of the BRCA2 gene is an established diseas e mechanism in hereditary breast and ovarian cancer (HBOC). In addition, this va riant was classified as Pathogenic on April 22, 2016 by the ClinGen-approved ENI GMA expert panel (ClinVar SCV000282410.1). In summary, this variant meets criter ia to be classified as pathogenic for HBOC in an autosomal dominant manner based upon predicted impact to the protein, absence in the general population and pre sence in multiple affected individuals. ACMG/AMP Criteria applied: PVS1; PS4; PM 2 (Richards 2015). (less)
Number of individuals with the variant: 2
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Pathogenic
(Mar 26, 2019)
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criteria provided, single submitter
Method: clinical testing
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not specified
Affected status: unknown
Allele origin:
germline
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ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV001160441.1
First in ClinVar: Feb 10, 2020 Last updated: Feb 10, 2020 |
Comment:
The BRCA2 c.5645C>A; p.Ser1882Ter variant (rs80358785), also known as 5873C>A, is reported in several individuals with hereditary breast and ovarian cancer syndrome and is described … (more)
The BRCA2 c.5645C>A; p.Ser1882Ter variant (rs80358785), also known as 5873C>A, is reported in several individuals with hereditary breast and ovarian cancer syndrome and is described as a founder mutation in the Eastern European population (Caputo 2012, Heramb 2018, Meisel 2017, Momozawa 2018). It has also been reported in two brothers with Wilms tumor and brain tumors, who also carry an additional truncating variant in trans (Reid 2005). This variant is reported as pathogenic by multiple laboratories in ClinVar (Variation ID: 37984). It is found in the general population with a low overall allele frequency of 0.002% (4/249416 alleles) in the Genome Aggregation Database. This variant induces an early termination codon and is predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. Based on available information, this variant is considered to be pathogenic. REFERENCES Caputo S et al. Description and analysis of genetic variants in French hereditary breast and ovarian cancer families recorded in the UMD-BRCA1/BRCA2 databases. Nucleic Acids Res. 2012 Jan;40(Database issue):D992-1002. Heramb C et al. BRCA1 and BRCA2 mutation spectrum - an update on mutation distribution in a large cancer genetics clinic in Norway. Hered Cancer Clin Pract. 2018 Jan 10;16:3. Meisel C et al. Spectrum of genetic variants of BRCA1 and BRCA2 in a German single center study. Arch Gynecol Obstet. 2017 May;295(5):1227-1238. Momozawa Y et al. Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls. Nat Commun. 2018 Oct 4;9(1):4083. Reid S et al. Biallelic BRCA2 mutations are associated with multiple malignancies in childhood including familial Wilms tumour. J Med Genet. 2005 Feb;42(2):147-51. (less)
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Pathogenic
(Feb 21, 2019)
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criteria provided, single submitter
Method: clinical testing
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Familial breast-ovarian cancer 2
Affected status: unknown
Allele origin:
germline
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Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine
Accession: SCV001434851.1
First in ClinVar: Oct 03, 2020 Last updated: Oct 03, 2020 |
Comment:
The c.5645C>A (p.Ser1882*) variant in the BRCA2 gene is predicted to introduce a premature translational termination codon. This variant has been reported in multiple families … (more)
The c.5645C>A (p.Ser1882*) variant in the BRCA2 gene is predicted to introduce a premature translational termination codon. This variant has been reported in multiple families affected with Hereditary Breast and Ovarian Cancer (PMID 10550133, 22144684, 28324225) and has also been reported in individuals affected with triple negative breast cancer (PMID 22666503), ovarian cancer (PMID 26439132) or metastatic prostate cancer (PMID 27433846). This variant is extremely rare in general population. Therefore, this c.5645C>A (p.Ser1882*) variant in the BRCA2 gene is classified as pathogenic. (less)
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Pathogenic
(Dec 10, 2021)
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criteria provided, single submitter
Method: clinical testing
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Breast carcinoma
Affected status: yes
Allele origin:
unknown
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Institute of Human Genetics, University of Leipzig Medical Center
Accession: SCV002044439.1
First in ClinVar: Jan 03, 2022 Last updated: Jan 03, 2022 |
Comment:
_x000D_ Criteria applied: PVS1, PS4, PM2_SUP
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Pathogenic
(Dec 20, 2021)
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criteria provided, single submitter
Method: curation
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Sema4, Sema4
Accession: SCV002536157.1
First in ClinVar: Jun 24, 2022 Last updated: Jun 24, 2022
Comment:
The BRCA2 c.5645C>A (p.S1882X) variant has been reported in heterozygosity in several individuals with breast, ovarian, and/or prostate cancer (PMID: 28324225, 22666503, 26439132, 21952622, among … (more)
The BRCA2 c.5645C>A (p.S1882X) variant has been reported in heterozygosity in several individuals with breast, ovarian, and/or prostate cancer (PMID: 28324225, 22666503, 26439132, 21952622, among others). This nonsense variant creates a premature stop codon at residue 1882 of the BRCA2 protein. Loss of function variants in BRCA2 are known to be pathogenic (PMID: 29446198). This variant was observed in 1/18348 chromosomes in the East Asian subpopulation in the large and broad cohorts of the Genome Aggregation Database (http://gnomad.broadinstitute.org, PMID: 32461654). This variant has been reported in ClinVar (Variation ID: 37984). Based on the current evidence available, this variant is interpreted as pathogenic. (less)
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Pathogenic
(Jan 19, 2021)
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criteria provided, single submitter
Method: clinical testing
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Not Provided
Affected status: yes
Allele origin:
germline
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GeneDx
Accession: SCV000210359.15
First in ClinVar: Feb 24, 2015 Last updated: Mar 04, 2023 |
Comment:
Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not … (more)
Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at a significant frequency in large population cohorts (gnomAD); Truncating variants in this gene are considered pathogenic by a well-established clinical consortium and/or database; This variant is associated with the following publications: (PMID: 25682074, 30287823, 30430080, 29339979, 29446198, 30093976, 31263054, 15689453, 10660329, 22144684, 22535016, 22666503, 21952622, 22009639, 26439132, 26221963, 26064523, 25863477, 25802882, 27225637, 25525159, 24916970, 24249303, 27533253, 27836010, 26733283, 27271530, 27767231, 15131399, 26848529, 27433846, 28283652, 28324225, 28259476, 29084914, 28724667, 28993434, 28715532, 29215753, 29659587, 29346284, 30274973, 30078507, 30720243, 30702160, 30322717, 27257965, 32467295, 11597388, 32318955, 31447099, 32853339, 32341426, 31825140, 32710294, 30875412, 33608381, 30787465, 31742824) (less)
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Pathogenic
(Dec 05, 2022)
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criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
germline
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Revvity Omics, Revvity
Accession: SCV003810499.2
First in ClinVar: Mar 04, 2023 Last updated: Feb 04, 2024 |
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Pathogenic
(Apr 10, 2023)
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criteria provided, single submitter
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 2
(Autosomal dominant inheritance)
Affected status: unknown
Allele origin:
germline
|
All of Us Research Program, National Institutes of Health
Accession: SCV004846612.1
First in ClinVar: Apr 20, 2024 Last updated: Apr 20, 2024
Comment:
This study involves interpretation of variants in research participants for the purpose of population health screening. Participant phenotype was not available at the time of … (more)
This study involves interpretation of variants in research participants for the purpose of population health screening. Participant phenotype was not available at the time of variant classification. Additional details can be found in publication PMID: 35346344, PMCID: PMC8962531 (less)
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Comment:
This variant changes 1 nucleotide in exon 11 of the BRCA2 gene, creating a premature translation stop signal. This variant is expected to result in … (more)
This variant changes 1 nucleotide in exon 11 of the BRCA2 gene, creating a premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. To our knowledge, functional studies have not been reported for this variant. This variant has been reported in at least 12 individuals affected with breast and/or ovarian cancer (PMID: 15024741, 15689453, 20104584, 22535016, 22666503, 26439132, 27257965, 28039656, 28724667, 30287823, 33471991; Leiden Open Variation Database DB-ID BRCA2_000141) and four individuals affected with prostate cancer (PMID: 27433846, 31214711). This variant also has been reported in two siblings who were compound heterozygous carriers with a second pathogenic BRCA2 variant and were both affected with Wilms tumor (PMID: 15689453). This variant has been identified in 4/249416 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA2 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic. (less)
Number of individuals with the variant: 1
|
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Pathogenic
(Mar 01, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
|
CeGaT Center for Human Genetics Tuebingen
Accession: SCV001501472.18
First in ClinVar: Mar 14, 2021 Last updated: May 12, 2024 |
Comment:
BRCA2: PVS1, PM2, PS4:Supporting
Number of individuals with the variant: 3
|
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Pathogenic
(May 31, 2016)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000694888.1
First in ClinVar: Dec 26, 2017 Last updated: Dec 26, 2017 |
Comment:
Variant summary: The BRCA2 c.5645C>A (p.Ser1882X) variant results in a premature termination codon, predicted to cause a truncated or absent BRCA2 protein due to nonsense … (more)
Variant summary: The BRCA2 c.5645C>A (p.Ser1882X) variant results in a premature termination codon, predicted to cause a truncated or absent BRCA2 protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant of interest was observed in the large, broad control population, ExAC, with an allele frequency of 3/120628 (1/40160, 0.0000249), which does not exceed the estimated maximal expected allele frequency for a pathogenic BRCA2 variant of 1/1333 (0.0007503). In addition, it needs to be noted that these three occurrences need to be cautiously considered due to the fact that the ExAC cohort contains individuals that could harbor a BRCA2 phenotype. However, multiple affected individuals have been reported via publications, along with numerous reputable databases/clinical laboratories citing the variant as "pathogenic." Therefore, the variant of interest has been classified as Pathogenic. (less)
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Pathogenic
(Feb 01, 2022)
|
criteria provided, single submitter
Method: research
|
Hereditary breast ovarian cancer syndrome
Affected status: yes
Allele origin:
germline
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Research Institute, Aichi Cancer Center
Accession: SCV002503893.1
First in ClinVar: Apr 23, 2022 Last updated: Apr 23, 2022 |
Number of individuals with the variant: 2
Sex: female
Ethnicity/Population group: East asian
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Pathogenic
(Jul 01, 2015)
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criteria provided, single submitter
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 2
Affected status: yes
Allele origin:
germline
|
Department of Medical Genetics, Oslo University Hospital
Accession: SCV000605680.3
First in ClinVar: Nov 05, 2016 Last updated: Dec 11, 2022 |
Number of individuals with the variant: 7
|
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Pathogenic
(Apr 08, 2022)
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criteria provided, single submitter
Method: clinical testing
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Familial cancer of breast
Medulloblastoma Malignant tumor of prostate Wilms tumor 1 Fanconi anemia complementation group D1 Breast-ovarian cancer, familial, susceptibility to, 2 Glioma susceptibility 3 Pancreatic cancer, susceptibility to, 2
Affected status: unknown
Allele origin:
unknown
|
Fulgent Genetics, Fulgent Genetics
Accession: SCV002809692.1
First in ClinVar: Dec 31, 2022 Last updated: Dec 31, 2022 |
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Pathogenic
(Jan 28, 2024)
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criteria provided, single submitter
Method: clinical testing
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Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
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Invitae
Accession: SCV000072718.15
First in ClinVar: Jul 03, 2013 Last updated: Feb 14, 2024 |
Comment:
This sequence change creates a premature translational stop signal (p.Ser1882*) in the BRCA2 gene. It is expected to result in an absent or disrupted protein … (more)
This sequence change creates a premature translational stop signal (p.Ser1882*) in the BRCA2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). This variant is present in population databases (rs80358785, gnomAD 0.006%). This premature translational stop signal has been observed in individual(s) with breast, ovarian and prostate cancer (PMID: 15024741, 21952622, 22144684, 22535016, 22666503). This variant is also known as 5873C>A. ClinVar contains an entry for this variant (Variation ID: 37984). For these reasons, this variant has been classified as Pathogenic. (less)
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Pathogenic
(Jan 16, 2024)
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criteria provided, single submitter
Method: clinical testing
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Color Diagnostics, LLC DBA Color Health
Accession: SCV000683721.5
First in ClinVar: Feb 19, 2018 Last updated: Feb 14, 2024 |
Comment:
This variant changes 1 nucleotide in exon 11 of the BRCA2 gene, creating a premature translation stop signal. This variant is expected to result in … (more)
This variant changes 1 nucleotide in exon 11 of the BRCA2 gene, creating a premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has been reported in at least 12 individuals affected with breast and/or ovarian cancer (PMID: 15024741, 15689453, 20104584, 22535016, 22666503, 26439132, 27257965, 28039656, 28724667, 30287823, 33471991; Leiden Open Variation Database DB-ID BRCA2_000141) and four individuals affected with prostate cancer (PMID: 27433846, 31214711). This variant also has been reported in two siblings who were compound heterozygous carriers with a second pathogenic BRCA2 variant and were both affected with Wilms tumor (PMID: 15689453). This variant has been identified in 4/249416 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA2 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic. (less)
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Pathogenic
(-)
|
no assertion criteria provided
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
|
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001906448.1 First in ClinVar: Sep 23, 2021 Last updated: Sep 23, 2021 |
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Pathogenic
(-)
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no assertion criteria provided
Method: literature only
|
Familial cancer of breast
Affected status: yes
Allele origin:
germline
|
Center for Precision Medicine, Meizhou People's Hospital
Accession: SCV002520807.1
First in ClinVar: Jun 05, 2022 Last updated: Jun 05, 2022 |
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Pathogenic
(Mar 02, 2020)
|
no assertion criteria provided
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 2
Affected status: yes
Allele origin:
germline
|
BRCAlab, Lund University
Accession: SCV004243679.1
First in ClinVar: Feb 14, 2024 Last updated: Feb 14, 2024 |
|
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Pathogenic
(Aug 19, 2011)
|
no assertion criteria provided
Method: clinical testing
|
Breast-ovarian cancer, familial 2
Affected status: not provided
Allele origin:
germline
|
Sharing Clinical Reports Project (SCRP)
Accession: SCV000054170.5
First in ClinVar: Apr 04, 2013 Last updated: Sep 27, 2014 |
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Pathogenic
(Feb 11, 2015)
|
no assertion criteria provided
(clinical testing)
Method: clinical testing
|
Breast-ovarian cancer, familial 2
Affected status: yes
Allele origin:
germline
|
Institute of Human Genetics, Medical University Innsbruck
Study: BRCA-Tyrol
Accession: SCV000212022.1 First in ClinVar: Mar 03, 2015 Last updated: Mar 03, 2015
Comment:
BRCA-mutation spectrum Western Austria
|
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Pathogenic
(May 29, 2002)
|
no assertion criteria provided
Method: clinical testing
|
Breast-ovarian cancer, familial 2
Affected status: yes
Allele origin:
germline,
unknown
|
Breast Cancer Information Core (BIC) (BRCA2)
Accession: SCV000146653.2
First in ClinVar: Apr 01, 2014 Last updated: Mar 03, 2015 |
Observation 1:
Number of individuals with the variant: 6
Observation 2:
Number of individuals with the variant: 1
Geographic origin: Netherlands
Observation 3:
Number of individuals with the variant: 1
Ethnicity/Population group: Asian
Observation 4:
Number of individuals with the variant: 1
Ethnicity/Population group: Bohemian, German
Observation 5:
Number of individuals with the variant: 1
Ethnicity/Population group: Caucasian
Observation 6:
Number of individuals with the variant: 2
Ethnicity/Population group: Caucasian
Geographic origin: Czech Republic
Observation 7:
Number of individuals with the variant: 1
Ethnicity/Population group: Caucasian
Geographic origin: Netherlands
Observation 8:
Number of individuals with the variant: 1
Ethnicity/Population group: Caucasian
Geographic origin: Netherlands, Canada
Observation 9:
Number of individuals with the variant: 1
Ethnicity/Population group: Caucasian
Geographic origin: Italy
Observation 10:
Number of individuals with the variant: 4
Ethnicity/Population group: Central/Eastern European
Observation 11:
Number of individuals with the variant: 1
Ethnicity/Population group: Chinese
Geographic origin: Malaysia
Observation 12:
Number of individuals with the variant: 1
Ethnicity/Population group: Japanese
Observation 13:
Number of individuals with the variant: 4
Ethnicity/Population group: Western European
Observation 14:
Number of individuals with the variant: 2
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Pathogenic
(-)
|
no assertion criteria provided
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 2
Affected status: yes
Allele origin:
germline
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV000733269.1 First in ClinVar: Apr 09, 2018 Last updated: Apr 09, 2018 |
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Pathogenic
(Dec 01, 2018)
|
no assertion criteria provided
Method: research
|
Neoplasm of ovary
Affected status: yes
Allele origin:
germline
|
German Consortium for Hereditary Breast and Ovarian Cancer, University Hospital Cologne
Accession: SCV000923792.1
First in ClinVar: Jun 17, 2019 Last updated: Jun 17, 2019 |
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Pathogenic
(Jun 11, 2019)
|
no assertion criteria provided
Method: clinical testing, case-control
|
Breast and/or ovarian cancer
Affected status: no, yes
Allele origin:
germline
|
CZECANCA consortium
Accession: SCV001451859.1
First in ClinVar: Dec 26, 2020 Last updated: Dec 26, 2020 |
Observation 1:
Number of individuals with the variant: 4
Ethnicity/Population group: Slavic
Geographic origin: Czech Republic
Observation 2:
Number of individuals with the variant: 1
Ethnicity/Population group: Slavic
Geographic origin: Czech Republic
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Uncertain significance
(-)
|
no assertion criteria provided
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
unknown
|
Department of Pathology and Laboratory Medicine, Sinai Health System
Additional submitter:
Franklin by Genoox
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV001552752.1 First in ClinVar: Apr 13, 2021 Last updated: Apr 13, 2021 |
Number of individuals with the variant: 2
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Pathogenic
(Jul 01, 2021)
|
no assertion criteria provided
Method: research
|
Gastric cancer
Affected status: unknown
Allele origin:
germline
|
Laboratory for Genotyping Development, RIKEN
Accession: SCV002758323.1
First in ClinVar: Apr 15, 2023 Last updated: Apr 15, 2023 |
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Pathogenic
(Jan 31, 2014)
|
no assertion criteria provided
Method: research
|
Hereditary breast ovarian cancer syndrome
Affected status: yes
Allele origin:
germline
|
Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV000587784.1 First in ClinVar: Aug 05, 2017 Last updated: Aug 05, 2017 |
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Pathogenic
(Feb 13, 2004)
|
no assertion criteria provided
Method: clinical testing
|
Breast and/or ovarian cancer
Affected status: unknown
Allele origin:
germline
|
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV000863707.1 First in ClinVar: Dec 24, 2018 Last updated: Dec 24, 2018 |
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Pathogenic
(Apr 15, 2020)
|
no assertion criteria provided
Method: research
|
Malignant tumor of prostate
Metastatic Prostate Small Cell Carcinoma (Autosomal dominant inheritance)
Affected status: yes
Allele origin:
germline
|
Rudy L. Ruggles Biomedical Research Institute, Danbury Hospital
Accession: SCV001451935.1
First in ClinVar: Jan 09, 2021 Last updated: Jan 09, 2021 |
Comment:
This BRCA2 variant (rs80358785) has been found in 65 year-old man with a germline BRCA2 mutation who developed explosive treatment-emergent, small-cell neuroendocrine prostate cancer.
Age: 60-69 years
Sex: male
Ethnicity/Population group: Indian
Geographic origin: United States
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|
Pathogenic
(-)
|
no assertion criteria provided
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001952938.1 First in ClinVar: Oct 02, 2021 Last updated: Oct 02, 2021 |
|
|
not provided
(-)
|
no classification provided
Method: phenotyping only
|
BRCA2-related disorder
Affected status: unknown
Allele origin:
unknown
|
GenomeConnect - Invitae Patient Insights Network
Accession: SCV004228895.1
First in ClinVar: Jan 26, 2024 Last updated: Jan 26, 2024 |
Comment:
Variant interpreted as Pathogenic and reported on 05-19-2017 by Lab Myriad Genetics. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the … (more)
Variant interpreted as Pathogenic and reported on 05-19-2017 by Lab Myriad Genetics. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information. (less)
Clinical Features:
Family history of cancer (present)
Age: 50-59 years
Sex: female
Method: Familial/Targeted Variant Analysis
Testing laboratory: Myriad Genetics, Inc.
Date variant was reported to submitter: 2017-05-19
Testing laboratory interpretation: Pathogenic
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Germline Functional Evidence
Functional
Help
The functional consequence of the variant, based on experimental evidence and provided by the submitter. consequence |
Method
Help
A brief description of the method used to determine the functional consequence of the variant. A citation for the method is included, when provided by the submitter. |
Result
Help
A brief description of the result of this method for this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting functional evidence for the germline classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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functional variant
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Rudy L. Ruggles Biomedical Research Institute, Danbury Hospital
Accession: SCV001451935.1
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Citations for germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
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Helicobacter pylori, Homologous-Recombination Genes, and Gastric Cancer. | Usui Y | The New England journal of medicine | 2023 | PMID: 36988593 |
BRCA1/2 Mutation Detection in the Tumor Tissue from Selected Polish Patients with Breast Cancer Using Next Generation Sequencing. | Szczerba E | Genes | 2021 | PMID: 33918338 |
Treatment-emergent neuroendocrine prostate cancer with a germline BRCA2 mutation: identification of a candidate reversion mutation associated with platinum/PARP-inhibitor resistance. | Pandya D | Cold Spring Harbor molecular case studies | 2021 | PMID: 33608381 |
Breast Cancer Risk Genes - Association Analysis in More than 113,000 Women. | Breast Cancer Association Consortium | The New England journal of medicine | 2021 | PMID: 33471991 |
Germline Sequencing DNA Repair Genes in 5545 Men With Aggressive and Nonaggressive Prostate Cancer. | Darst BF | Journal of the National Cancer Institute | 2021 | PMID: 32853339 |
Disclosure of secondary findings in exome sequencing of 2480 Japanese cancer patients. | Horiuchi Y | Human genetics | 2021 | PMID: 32710294 |
Prevalence of BRCA1/BRCA2 pathogenic variation in Chinese Han population. | Dong H | Journal of medical genetics | 2021 | PMID: 32467295 |
Clinical outcome of breast cancer in carriers of BRCA1 and BRCA2 mutations according to molecular subtypes. | De Talhouet S | Scientific reports | 2020 | PMID: 32341426 |
Evaluation of pathogenetic mutations in breast cancer predisposition genes in population-based studies conducted among Chinese women. | Zeng C | Breast cancer research and treatment | 2020 | PMID: 32318955 |
Comprehensive profiling of BRCA1 and BRCA2 variants in breast and ovarian cancer in Chinese patients. | Gao X | Human mutation | 2020 | PMID: 31825140 |
Prevalence of hereditary breast and ovarian cancer (HBOC) predisposition gene mutations among 882 HBOC high-risk Chinese individuals. | Shao D | Cancer science | 2020 | PMID: 31742824 |
Germline Pathogenic Variants in 7636 Japanese Patients With Prostate Cancer and 12 366 Controls. | Momozawa Y | Journal of the National Cancer Institute | 2020 | PMID: 31214711 |
Universal Tumor DNA BRCA1/2 Testing of Ovarian Cancer: Prescreening PARPi Treatment and Genetic Predisposition. | Vos JR | Journal of the National Cancer Institute | 2020 | DOI: 10.1093/jnci/djz080 |
Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network. | eMERGE Consortium. Electronic address: agibbs@bcm.edu | American journal of human genetics | 2019 | PMID: 31447099 |
Frequency of Pathogenic Germline Variants in CDH1, BRCA2, CHEK2, PALB2, BRCA1, and TP53 in Sporadic Lobular Breast Cancer. | Petridis C | Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology | 2019 | PMID: 31263054 |
Discoveries beyond BRCA1/2: Multigene testing in an Asian multi-ethnic cohort suspected of hereditary breast cancer syndrome in the real world. | Ow SGW | PloS one | 2019 | PMID: 30875412 |
Toward automation of germline variant curation in clinical cancer genetics. | Ravichandran V | Genetics in medicine : official journal of the American College of Medical Genetics | 2019 | PMID: 30787465 |
High prevalence of cancer-associated TP53 variants in the gnomAD database: A word of caution concerning the use of variant filtering. | Soussi T | Human mutation | 2019 | PMID: 30720243 |
Germline variation in BRCA1/2 is highly ethnic-specific: Evidence from over 30,000 Chinese hereditary breast and ovarian cancer patients. | Bhaskaran SP | International journal of cancer | 2019 | PMID: 30702160 |
Germline pathogenic variants identified in women with ovarian tumors. | Carter NJ | Gynecologic oncology | 2018 | PMID: 30322717 |
Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls. | Momozawa Y | Nature communications | 2018 | PMID: 30287823 |
High Prevalence of Hereditary Cancer Syndromes and Outcomes in Adults with Early-Onset Pancreatic Cancer. | Bannon SA | Cancer prevention research (Philadelphia, Pa.) | 2018 | PMID: 30274973 |
Clinical genetic testing outcome with multi-gene panel in Asian patients with multiple primary cancers. | Chan GHJ | Oncotarget | 2018 | PMID: 30093976 |
BRCA germline mutations in an unselected nationwide cohort of Chinese patients with ovarian cancer and healthy controls. | Li A | Gynecologic oncology | 2018 | PMID: 30078507 |
Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. | Rebbeck TR | Human mutation | 2018 | PMID: 29446198 |
BRCA1 and BRCA2 mutation spectrum - an update on mutation distribution in a large cancer genetics clinic in Norway. | Heramb C | Hereditary cancer in clinical practice | 2018 | PMID: 29339979 |
Genetic and clinical characteristics in Japanese hereditary breast and ovarian cancer: first report after establishment of HBOC registration system in Japan. | Arai M | Journal of human genetics | 2018 | PMID: 29176636 |
Location of Mutation in BRCA2 Gene and Survival in Patients with Ovarian Cancer. | Labidi-Galy SI | Clinical cancer research : an official journal of the American Association for Cancer Research | 2018 | PMID: 29084914 |
Inherited mutations in BRCA1 and BRCA2 in an unselected multiethnic cohort of Asian patients with breast cancer and healthy controls from Malaysia. | Wen WX | Journal of medical genetics | 2018 | PMID: 28993434 |
Germline Mutations in Cancer Susceptibility Genes in a Large Series of Unselected Breast Cancer Patients. | Sun J | Clinical cancer research : an official journal of the American Association for Cancer Research | 2017 | PMID: 28724667 |
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. | Nykamp K | Genetics in medicine : official journal of the American College of Medical Genetics | 2017 | PMID: 28492532 |
Spectrum of genetic variants of BRCA1 and BRCA2 in a German single center study. | Meisel C | Archives of gynecology and obstetrics | 2017 | PMID: 28324225 |
Novel and reported pathogenic variants in exon 11 of BRCA2 gene in a cohort of Sri Lankan young breast cancer patients. | De Silva S | Familial cancer | 2017 | PMID: 28039656 |
Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women. | Rebbeck TR | Breast cancer research : BCR | 2016 | PMID: 27836010 |
Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer. | Pritchard CC | The New England journal of medicine | 2016 | PMID: 27433846 |
Prevalence and Prognostic Role of BRCA1/2 Variants in Unselected Chinese Breast Cancer Patients. | Zhong X | PloS one | 2016 | PMID: 27257965 |
BRCA1 and BRCA2 mutations in Japanese patients with ovarian, fallopian tube, and primary peritoneal cancer. | Sakamoto I | Cancer | 2016 | PMID: 26439132 |
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. | Xiong HY | Science (New York, N.Y.) | 2015 | PMID: 25525159 |
Characteristics and spectrum of BRCA1 and BRCA2 mutations in 3,922 Korean patients with breast and ovarian cancer. | Kim H | Breast cancer research and treatment | 2012 | PMID: 22798144 |
BRCA2 mutations and triple-negative breast cancer. | Meyer P | PloS one | 2012 | PMID: 22666503 |
Double heterozygosity for mutations in BRCA1 and BRCA2 in German breast cancer patients: implications on test strategies and clinical management. | Heidemann S | Breast cancer research and treatment | 2012 | PMID: 22535016 |
Description and analysis of genetic variants in French hereditary breast and ovarian cancer families recorded in the UMD-BRCA1/BRCA2 databases. | Caputo S | Nucleic acids research | 2012 | PMID: 22144684 |
Predictive factors for BRCA1/BRCA2 mutations in women with ductal carcinoma in situ. | Bayraktar S | Cancer | 2012 | PMID: 22009639 |
BRCA2 is a moderate penetrance gene contributing to young-onset prostate cancer: implications for genetic testing in prostate cancer patients. | Kote-Jarai Z | British journal of cancer | 2011 | PMID: 21952622 |
Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study. | Borg A | Human mutation | 2010 | PMID: 20104584 |
[Analysis of BRCA2 gene mutations among familial and/or early-onset breast cancer patients in eastern Shandong of China]. | Ma ZL | Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2008 | PMID: 18393245 |
Biallelic BRCA2 mutations are associated with multiple malignancies in childhood including familial Wilms tumour. | Reid S | Journal of medical genetics | 2005 | PMID: 15689453 |
BRCA1 and BRCA2 mutations in women with familial or early-onset breast/ovarian cancer in the Czech Republic. | Foretova L | Human mutation | 2004 | PMID: 15024741 |
Comprehensive analysis of 989 patients with breast or ovarian cancer provides BRCA1 and BRCA2 mutation profiles and frequencies for the German population. | Meindl A | International journal of cancer | 2002 | PMID: 11802209 |
Large regional differences in the frequency of distinct BRCA1/BRCA2 mutations in 517 Dutch breast and/or ovarian cancer families. | Verhoog LC | European journal of cancer (Oxford, England : 1990) | 2001 | PMID: 11597388 |
Characterization of ten novel and 13 recurring BRCA1 and BRCA2 germline mutations in Italian breast and/or ovarian carcinoma patients. Mutations in brief no. 178. Online. | De Benedetti VM | Human mutation | 1998 | PMID: 10660329 |
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Text-mined citations for rs80358785 ...
HelpRecord last updated Jun 10, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.