ClinVar Genomic variation as it relates to human health
NM_000492.4(CFTR):c.2988+1G>A
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_000492.4(CFTR):c.2988+1G>A
Variation ID: 7224 Accession: VCV000007224.130
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 7q31.2 7: 117606754 (GRCh38) [ NCBI UCSC ] 7: 117246808 (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 Mar 24, 2015 May 1, 2024 Mar 3, 2004 - HGVS
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Nucleotide Protein Molecular
consequenceNM_000492.4:c.2988+1G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
splice donor NC_000007.14:g.117606754G>A NC_000007.13:g.117246808G>A NG_016465.4:g.145971G>A LRG_663:g.145971G>A LRG_663t1:c.2988+1G>A - Protein change
- Other names
- 3120+1G>A
- 3120+1G-A
- 3120+1G->A
- IVS16, G-A, +1
- Canonical SPDI
- NC_000007.14:117606753:G:A
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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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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0.00020 (A)
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
Exome Aggregation Consortium (ExAC) 0.00008
The Genome Aggregation Database (gnomAD), exomes 0.00010
1000 Genomes Project 30x 0.00016
1000 Genomes Project 0.00020
The Genome Aggregation Database (gnomAD) 0.00030
Trans-Omics for Precision Medicine (TOPMed) 0.00037
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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CFTR | - | - |
GRCh38 GRCh37 |
3704 | 5025 |
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 (16) |
practice guideline
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Mar 3, 2004 | RCV000007645.43 | |
CFTR-related disorder
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Pathogenic (2) |
criteria provided, single submitter
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Feb 23, 2023 | RCV001027899.10 |
Pathogenic (9) |
criteria provided, multiple submitters, no conflicts
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Jul 31, 2023 | RCV000759761.33 | |
Pathogenic (1) |
criteria provided, single submitter
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Oct 31, 2018 | RCV000763580.10 | |
Pathogenic (1) |
criteria provided, single submitter
|
- | RCV001004285.9 | |
Pathogenic (1) |
criteria provided, single submitter
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Oct 23, 2023 | RCV003473046.1 |
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
(Mar 03, 2004)
|
practice guideline
Method: curation
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Cystic fibrosis
(Autosomal recessive inheritance)
Affected status: unknown
Allele origin:
germline
|
American College of Medical Genetics and Genomics (ACMG)
Study: The ACMG recommended carrier screening panel
Accession: SCV000071402.2 First in ClinVar: Jun 04, 2013 Last updated: Mar 24, 2015 |
Comment:
Converted during submission to Pathogenic.
|
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Pathogenic
(Mar 17, 2017)
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reviewed by expert panel
Method: research
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Cystic fibrosis
Affected status: yes
Allele origin:
germline
|
CFTR2
Study: CFTR2
Accession: SCV000071456.4 First in ClinVar: Oct 18, 2013 Last updated: Dec 26, 2017 |
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Pathogenic
(Dec 30, 2017)
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criteria provided, single submitter
Method: clinical testing
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Cystic fibrosis
Affected status: yes
Allele origin:
unknown
|
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University
Accession: SCV000891677.1
First in ClinVar: Oct 10, 2018 Last updated: Oct 10, 2018 |
Geographic origin: Middle East
|
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Pathogenic
(Mar 05, 2018)
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criteria provided, single submitter
Method: clinical testing
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Cystic fibrosis
Affected status: yes
Allele origin:
inherited
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Genomic Research Center, Shahid Beheshti University of Medical Sciences
Accession: SCV000784252.2
First in ClinVar: Dec 26, 2017 Last updated: Dec 11, 2022 |
Number of individuals with the variant: 1
Age: 10-19 years
Sex: male
Geographic origin: Iran
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Pathogenic
(Jul 27, 2021)
|
criteria provided, single submitter
Method: clinical testing
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Not provided
Affected status: unknown
Allele origin:
germline
|
Mayo Clinic Laboratories, Mayo Clinic
Accession: SCV001714239.2
First in ClinVar: Jun 15, 2021 Last updated: Apr 09, 2023 |
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Pathogenic
(Jul 01, 2023)
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criteria provided, single submitter
Method: research
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Cystic fibrosis
Affected status: yes
Allele origin:
germline
|
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand
Accession: SCV004034122.1
First in ClinVar: Sep 16, 2023 Last updated: Sep 16, 2023 |
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Pathogenic
(Feb 23, 2023)
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criteria provided, single submitter
Method: clinical testing
|
CFTR-related condition
Affected status: unknown
Allele origin:
germline
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PreventionGenetics, part of Exact Sciences
Accession: SCV004118258.1
First in ClinVar: Nov 20, 2023 Last updated: Nov 20, 2023 |
Comment:
The CFTR c.2988+1G>A variant is predicted to disrupt the GT donor site and interfere with normal splicing. This variant has previously been reported to be … (more)
The CFTR c.2988+1G>A variant is predicted to disrupt the GT donor site and interfere with normal splicing. This variant has previously been reported to be causative for cystic fibrosis (Wilschanski et al. 1995. PubMed ID: 7472820; Sosnay et al. 2013. PubMed ID: 23974870). This variant is reported in 0.12% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/7-117246808-G-A). Variants that disrupt the consensus splice donor site in CFTR are expected to be pathogenic. This variant is interpreted as pathogenic. (less)
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Pathogenic
(Jun 18, 2021)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
germline
|
Revvity Omics, Revvity
Accession: SCV002019242.3
First in ClinVar: Nov 29, 2021 Last updated: Feb 04, 2024 |
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Pathogenic
(Jan 25, 2024)
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criteria provided, single submitter
Method: clinical testing
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Cystic fibrosis
Affected status: unknown
Allele origin:
germline
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Invitae
Accession: SCV000074751.11
First in ClinVar: Jul 03, 2013 Last updated: Feb 14, 2024 |
Comment:
This sequence change affects a donor splice site in intron 18 of the CFTR gene. It is expected to disrupt RNA splicing. Variants that disrupt … (more)
This sequence change affects a donor splice site in intron 18 of the CFTR gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in CFTR are known to be pathogenic (PMID: 1695717, 7691345, 9725922). This variant is present in population databases (rs75096551, gnomAD 0.1%). Disruption of this splice site has been observed in individuals with cystic fibrosis, and is included in the American College of Medical Genetics (ACMG) panel of CF variants (PMID: 15371902, 23974870). This variant is also known as 3120+1G>A. ClinVar contains an entry for this variant (Variation ID: 7224). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic. (less)
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Pathogenic
(Mar 26, 2024)
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criteria provided, single submitter
Method: clinical testing
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Cystic fibrosis
Affected status: unknown
Allele origin:
germline
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Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
Accession: SCV004807375.1
First in ClinVar: Apr 06, 2024 Last updated: Apr 06, 2024 |
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Pathogenic
(Feb 09, 2022)
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criteria provided, single submitter
Method: clinical testing
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Cystic fibrosis
Affected status: unknown
Allele origin:
germline
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Ambry Genetics
Accession: SCV002751244.2
First in ClinVar: Nov 29, 2022 Last updated: May 01, 2024 |
Comment:
The c.2988+1G>A pathogenic mutation (also known as 3120+1G>A in published literature), is located one nucleotide after coding exon 18 of the CFTR gene. This is … (more)
The c.2988+1G>A pathogenic mutation (also known as 3120+1G>A in published literature), is located one nucleotide after coding exon 18 of the CFTR gene. This is one of the most common pathogenic mutations in African American individuals with cystic fibrosis (CF) (Zampoli On Behalf Of The Msac M. S. Afr. Med. J., 2018 Dec;109:16-19). In one study, this mutation was identified in ten affected African American individuals with pancreatic insufficiency (PI) and elevated sweat chloride levels (Macek M Am. J. Hum. Genet. 1997 May;60(5):1122-7). This pathogenic mutation was further described in four African American individuals, one who was homozygous and three compound heterozygous with another mutation. All individuals demonstrated compromised lung function, elevated sweat chloride levels, and PI (Carles S et al. J. Med. Genet. 1996 Sep;33(9):802-4). A functional in vitro study of splice site alterations in CFTR noted this mutation generated no detectable CFTR protein (Sharma N et al Hum. Mutat. 2014 Oct;35(10):1249-59). In addition to the clinical data presented in the literature, alterations that disrupt the canonical splice site are expected to cause aberrant splicing, resulting in an abnormal protein or a transcript that is subject to nonsense-mediated mRNA decay. As such, this alteration is classified as pathogenic. (less)
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Pathogenic
(Oct 31, 2018)
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criteria provided, single submitter
Method: clinical testing
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Hereditary pancreatitis
Bronchiectasis with or without elevated sweat chloride 1 Cystic fibrosis Congenital bilateral aplasia of vas deferens from CFTR mutation
Affected status: unknown
Allele origin:
unknown
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Fulgent Genetics, Fulgent Genetics
Accession: SCV000894419.1
First in ClinVar: Mar 31, 2019 Last updated: Mar 31, 2019 |
|
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Pathogenic
(Dec 27, 2016)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
germline
|
Eurofins Ntd Llc (ga)
Accession: SCV000226734.5
First in ClinVar: Jun 29, 2015 Last updated: Jul 31, 2019 |
Number of individuals with the variant: 20
Sex: mixed
|
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Pathogenic
(May 28, 2019)
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criteria provided, single submitter
Method: clinical testing
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Cystic fibrosis
Affected status: unknown
Allele origin:
unknown
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Mendelics
Accession: SCV001137489.1
First in ClinVar: Jan 13, 2020 Last updated: Jan 13, 2020 |
|
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Pathogenic
(-)
|
criteria provided, single submitter
Method: clinical testing
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Congenital bilateral aplasia of vas deferens from CFTR mutation
Cystic fibrosis
Affected status: unknown
Allele origin:
germline
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Baylor Genetics
Accession: SCV001163161.1
First in ClinVar: Mar 01, 2020 Last updated: Mar 01, 2020 |
|
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Pathogenic
(Jan 29, 2018)
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criteria provided, single submitter
Method: curation
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cystic fibrosis
Affected status: yes
Allele origin:
germline
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CFTR-France
Accession: SCV001169503.1
First in ClinVar: Mar 16, 2020 Last updated: Mar 16, 2020 |
|
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Pathogenic
(Nov 12, 2019)
|
criteria provided, single submitter
Method: clinical testing
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Cystic fibrosis
Affected status: unknown
Allele origin:
unknown
|
Myriad Genetics, Inc.
Accession: SCV001194076.2
First in ClinVar: Apr 06, 2020 Last updated: Jul 06, 2020 |
Comment:
NM_000492.3(CFTR):c.2988+1G>A(aka 3120+1G>A) is classified as pathogenic in the context of cystic fibrosis and is associated with the classic form of disease. Sources cited for classification … (more)
NM_000492.3(CFTR):c.2988+1G>A(aka 3120+1G>A) is classified as pathogenic in the context of cystic fibrosis and is associated with the classic form of disease. Sources cited for classification include the following: PMID 23974870. Classification of NM_000492.3(CFTR):c.2988+1G>A(aka 3120+1G>A) is based on the following criteria: The variant is located at a canonical splice site, is expected to disrupt gene function and is reported in individuals with the relevant phenotype. Please note: this variant was assessed in the context of healthy population screening. (less)
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Pathogenic
(Sep 26, 2019)
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criteria provided, single submitter
Method: clinical testing
|
Cystic fibrosis
Affected status: yes
Allele origin:
unknown
|
Baylor Genetics
Accession: SCV001523283.1
First in ClinVar: Mar 22, 2021 Last updated: Mar 22, 2021 |
Comment:
This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
|
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Pathogenic
(Aug 20, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
Cystic fibrosis
Affected status: yes
Allele origin:
germline
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Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
Accession: SCV002512247.1
First in ClinVar: May 21, 2022 Last updated: May 21, 2022 |
Comment:
ACMG classification criteria: PVS1 very strong, PS3 supporting, PS4 moderate, PM3 strong
Geographic origin: Brazil
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Pathogenic
(Dec 17, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
|
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital
Accession: SCV002818169.1
First in ClinVar: Jan 07, 2023 Last updated: Jan 07, 2023 |
|
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Pathogenic
(Oct 23, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Bronchiectasis with or without elevated sweat chloride 1
Affected status: unknown
Allele origin:
unknown
|
Baylor Genetics
Accession: SCV004213277.1
First in ClinVar: Dec 30, 2023 Last updated: Dec 30, 2023 |
|
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Pathogenic
(Apr 11, 2020)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
unknown
|
Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV000889304.4
First in ClinVar: Mar 14, 2019 Last updated: Jan 06, 2024 |
Comment:
The pathogenic c.2988+1G>A variant (also known as 3120+1G>A) is located in a canonical splice-donor site and interferes with/prevents normal CFTR mRNA splicing (PMID: 25066652 (2014)). … (more)
The pathogenic c.2988+1G>A variant (also known as 3120+1G>A) is located in a canonical splice-donor site and interferes with/prevents normal CFTR mRNA splicing (PMID: 25066652 (2014)). It is a known CF pathogenic variant associated with pancreatic insufficiency, and has been reported in individuals affected with CF in the published literature (PMIDs: 9683582 (1998), 9950364 (1999), 23206872 (2013), and 23974870 (2013)). (less)
|
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Pathogenic
(Jul 31, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
germline
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV000603044.5
First in ClinVar: Sep 30, 2017 Last updated: Feb 20, 2024 |
Comment:
The CFTR c.2988+1G>A variant (rs75096551), also known as 3120+1G>A, is reported in patients diagnosed with cystic fibrosis (Chavez-Saldana 2010, Masekela 2013, Wilschanski 1995), and is … (more)
The CFTR c.2988+1G>A variant (rs75096551), also known as 3120+1G>A, is reported in patients diagnosed with cystic fibrosis (Chavez-Saldana 2010, Masekela 2013, Wilschanski 1995), and is associated with elevated sweat levels and pancreatic insufficiency (Masekela 2013, Ooi 2012, Sosnay 2013, see CFTR2 database). This variant is reported in ClinVar (Variation ID: 7224), and is found in the general population with an overall allele frequency of 0.01% (33/282364 alleles) in the Genome Aggregation Database. This variant disrupts the canonical splice donor site of intron 18, which is likely to negatively impact gene function. Functional characterization indicates that exon 18 is skipped in the CFTR mRNA, and results in the absence of CFTR protein (Sharma 2014). Based on available information, this variant is considered to be pathogenic. References: CFTR2 database link: https://cftr2.org/ Chavez-Saldana M et al. CFTR allelic heterogeneity in Mexican patients with cystic fibrosis: implications for molecular screening. Rev Invest Clin. 2010; 62(6):546-52. PMID: 21416780 Masekela R et al. Phenotypic expression of the 3120+1G>A mutation in non-Caucasian children with cystic fibrosis in South Africa. J Cyst Fibros. 2013; 12(4):363-6. PMID: 23206872 Ooi C. et al. Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in pancreatitis. J Cyst Fibros. 2012; 11(5):355-62. PMID: 22658665 Sharma N et al. Experimental assessment of splicing variants using expression minigenes and comparison with in silico predictions. Hum Mutat. 2014; 35(10):1249-59. PMID: 25066652 Sosnay PR et al. Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene. Nat Genet. 2013; 45(10):1160-7. PMID: 23974870 Wilschanski M et al. Correlation of sweat chloride concentration with classes of the cystic fibrosis transmembrane conductance regulator gene mutations. J Pediatr. 1995; 127(5):705-10. PMID: 7472820 (less)
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Pathogenic
(Jun 22, 2015)
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no assertion criteria provided
Method: clinical testing
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Cystic Fibrosis
Affected status: unknown
Allele origin:
germline
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000052162.2
First in ClinVar: Apr 04, 2013 Last updated: Oct 11, 2015 |
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Pathogenic
(Aug 01, 1998)
|
no assertion criteria provided
Method: literature only
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CYSTIC FIBROSIS
Affected status: not provided
Allele origin:
germline
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OMIM
Accession: SCV000027846.2
First in ClinVar: Apr 04, 2013 Last updated: Dec 26, 2017 |
Comment on evidence:
Dork et al. (1998) concluded that the 3120+1G-A mutation, which is present in African, Arab, and a few Greek families with cystic fibrosis (CF; 219700), … (more)
Dork et al. (1998) concluded that the 3120+1G-A mutation, which is present in African, Arab, and a few Greek families with cystic fibrosis (CF; 219700), probably was derived from a common ancestor because the haplotypes are very similar or identical. (less)
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Pathogenic
(-)
|
no assertion criteria provided
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001741020.3 First in ClinVar: Jul 07, 2021 Last updated: Sep 08, 2021 |
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Pathogenic
(-)
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no assertion criteria provided
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
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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: SCV001957727.1 First in ClinVar: Oct 02, 2021 Last updated: Oct 02, 2021 |
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Pathogenic
(May 20, 2019)
|
no assertion criteria provided
Method: clinical testing
|
CFTR-related disorders
Affected status: unknown
Allele origin:
germline
|
Natera, Inc.
Accession: SCV001190622.1
First in ClinVar: Mar 29, 2020 Last updated: Mar 29, 2020 |
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Pathogenic
(-)
|
no assertion criteria provided
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001966485.1 First in ClinVar: Oct 07, 2021 Last updated: Oct 07, 2021 |
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not provided
(-)
|
no classification provided
Method: literature only
|
Cystic fibrosis
Affected status: unknown
Allele origin:
unknown
|
GeneReviews
Accession: SCV001622803.2
First in ClinVar: May 23, 2021 Last updated: Oct 01, 2022 |
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Germline Functional Evidence
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
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Prevalence of monogenic disease in paediatric patients with a predominant respiratory phenotype. | Dai D | Archives of disease in childhood | 2022 | PMID: 34134972 |
Genetic variants in children with chronic respiratory diseases. | Alsamri MT | Pediatric pulmonology | 2020 | PMID: 32662942 |
Analysis of CFTR Mutation Spectrum in Ethnic Russian Cystic Fibrosis Patients. | Petrova NV | Genes | 2020 | PMID: 32429104 |
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes. | Capalbo A | PLoS genetics | 2019 | PMID: 31589614 |
Sequencing as a first-line methodology for cystic fibrosis carrier screening. | Beauchamp KA | Genetics in medicine : official journal of the American College of Medical Genetics | 2019 | PMID: 31036917 |
Cystic fibrosis: What's new in South Africa in 2019. | Zampoli On Behalf Of The Msac M | South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde | 2018 | PMID: 30606298 |
Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests. | Archibald AD | Genetics in medicine : official journal of the American College of Medical Genetics | 2018 | PMID: 29261177 |
Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results. | Tabor HK | American journal of human genetics | 2014 | PMID: 25087612 |
Experimental assessment of splicing variants using expression minigenes and comparison with in silico predictions. | Sharma N | Human mutation | 2014 | PMID: 25066652 |
Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene. | Sosnay PR | Nature genetics | 2013 | PMID: 23974870 |
Phenotypic expression of the 3120+1G>A mutation in non-Caucasian children with cystic fibrosis in South Africa. | Masekela R | Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society | 2013 | PMID: 23206872 |
An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals. | Lazarin GA | Genetics in medicine : official journal of the American College of Medical Genetics | 2013 | PMID: 22975760 |
Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in pancreatitis. | Ooi CY | Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society | 2012 | PMID: 22658665 |
Common CFTR haplotypes and susceptibility to chronic pancreatitis and congenital bilateral absence of the vas deferens. | Steiner B | Human mutation | 2011 | PMID: 21520337 |
CFTR allelic heterogeneity in Mexican patients with cystic fibrosis: implications for molecular screening. | Chávez-Saldaña M | Revista de investigacion clinica; organo del Hospital de Enfermedades de la Nutricion | 2010 | PMID: 21416780 |
Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice. | Castellani C | Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society | 2008 | PMID: 18456578 |
3120+1 G-->A: a rare variant in Emirati CF patients. | Saleheen D | Journal of the College of Physicians and Surgeons--Pakistan : JCPSP | 2006 | PMID: 16499810 |
Splicing in action: assessing disease causing sequence changes. | Baralle D | Journal of medical genetics | 2005 | PMID: 16199547 |
Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel. | Watson MS | Genetics in medicine : official journal of the American College of Medical Genetics | 2004 | PMID: 15371902 |
Geographic distribution of cystic fibrosis transmembrane regulator gene mutations in Saudi Arabia. | Banjar H | Eastern Mediterranean health journal = La revue de sante de la Mediterranee orientale = al-Majallah al-sihhiyah li-sharq al-mutawassit | 1999 | PMID: 11924117 |
Cystic fibrosis carrier frequencies in populations of African origin. | Padoa C | Journal of medical genetics | 1999 | PMID: 9950364 |
Relation between mutations of the cystic fibrosis gene and idiopathic pancreatitis. | Cohn JA | The New England journal of medicine | 1998 | PMID: 9725922 |
Evidence for a common ethnic origin of cystic fibrosis mutation 3120+1G-->A in diverse populations. | Dörk T | American journal of human genetics | 1998 | PMID: 9683582 |
Identification of common cystic fibrosis mutations in African-Americans with cystic fibrosis increases the detection rate to 75%. | Macek M Jr | American journal of human genetics | 1997 | PMID: 9150159 |
First report of CFTR mutations in black cystic fibrosis patients of southern African origin. | Carles S | Journal of medical genetics | 1996 | PMID: 8880589 |
Correlation of sweat chloride concentration with classes of the cystic fibrosis transmembrane conductance regulator gene mutations. | Wilschanski M | The Journal of pediatrics | 1995 | PMID: 7472820 |
Molecular basis of defective anion transport in L cells expressing recombinant forms of CFTR. | Yang Y | Human molecular genetics | 1993 | PMID: 7691345 |
A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein. | Cutting GR | Nature | 1990 | PMID: 1695717 |
http://cftr2.org/mutation/scientific/3120%252B1G-%253EA/ | - | - | - | - |
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=CFTR | - | - | - | - |
https://cftr2.org | - | - | - | - |
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Text-mined citations for rs75096551 ...
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.