ClinVar Genomic variation as it relates to human health
NM_001042492.3(NF1):c.4330A>G (p.Lys1444Glu)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_001042492.3(NF1):c.4330A>G (p.Lys1444Glu)
Variation ID: 336 Accession: VCV000000336.37
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q11.2 17: 31258500 (GRCh38) [ NCBI UCSC ] 17: 29585518 (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 Apr 21, 2017 Feb 20, 2024 Dec 24, 2023 - HGVS
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Nucleotide Protein Molecular
consequenceNM_001042492.3:c.4330A>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001035957.1:p.Lys1444Glu missense NM_000267.3:c.4267A>G NP_000258.1:p.Lys1423Glu missense NC_000017.11:g.31258500A>G NC_000017.10:g.29585518A>G NG_009018.1:g.168524A>G LRG_214:g.168524A>G LRG_214t1:c.4267A>G LRG_214p1:p.Lys1423Glu LRG_214t2:c.4330A>G LRG_214p2:p.Lys1444Glu - Protein change
- K1423E, K1444E
- Other names
- -
- Canonical SPDI
- NC_000017.11:31258499:A:G
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
- Decreased function
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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) 0.00000
Exome Aggregation Consortium (ExAC) 0.00001
The Genome Aggregation Database (gnomAD) 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
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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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NF1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
13936 | 14346 |
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 (8) |
criteria provided, multiple submitters, no conflicts
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Dec 24, 2023 | RCV000000364.34 | |
Pathogenic (5) |
criteria provided, multiple submitters, no conflicts
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Nov 3, 2021 | RCV000489593.19 | |
Pathogenic (1) |
criteria provided, single submitter
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Jan 1, 2017 | RCV000626644.9 | |
Pathogenic (1) |
criteria provided, single submitter
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Oct 31, 2018 | RCV000762990.9 | |
Pathogenic (1) |
criteria provided, single submitter
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Dec 17, 2021 | RCV002310992.8 | |
Pathogenic (1) |
criteria provided, single submitter
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Sep 14, 2022 | RCV002305424.8 | |
Pathogenic (1) |
criteria provided, single submitter
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Feb 12, 2023 | RCV003460397.1 |
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
(Jun 09, 2015)
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criteria provided, single submitter
Method: clinical testing
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Neurofibromatosis, type 1
(Autosomal dominant inheritance)
Affected status: not provided
Allele origin:
germline
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Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
Accession: SCV000271424.3
First in ClinVar: May 29, 2016 Last updated: Aug 26, 2019 |
Comment:
The p.Lys1444Glu variant in NF1 (p.Lys1423Glu on transcript NM_000267.3) has bee n previously reported in at least 5 individuals with Neurofibromatosis type 1 an d … (more)
The p.Lys1444Glu variant in NF1 (p.Lys1423Glu on transcript NM_000267.3) has bee n previously reported in at least 5 individuals with Neurofibromatosis type 1 an d segregated with disease in 4 affected family members from 1 family (Li 1992, U padhyaya 1997, Upadhyaya 2004, Laycock-VanSpyke 2011 ). In addition, it has been identified as a somatic variant in individuals with colon adenocarcinoma, anapl astic astrocytoma, and myelodysplasitc syndrome (Li 1992). This variant has also been identified in 1/65426 European chromosomes by the Exome Aggregation Consor tium (ExAC, http://exac.broadinstitute.org; dbSNP rs137854550). Please note that for diseases with variable expressivity, pathogenic variants may be present at a low frequency in the general population. Furthermore, in-vitro functional stud ies provide some evidence that this variant may impact protein function (Li 1992 , Poullet 1994, Thomas 2012). This variant is located in the last three bases of the exon, which is part of the 5? splice region, and computational tools sugges t a possible impact to splicing. However, in vitro assays and computational too ls may not accurately represent biological function. In summary, this variant m eets our criteria to be classified as pathogenic for neurofibromatosis type 1 in an autosomal dominant manner (http://www.partners.org/personalizedmedicine/LMM) based upon segregation studies and functional evidence. (less)
Number of individuals with the variant: 1
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Pathogenic
(Jun 05, 2019)
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criteria provided, single submitter
Method: clinical testing
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Neurofibromatosis, type 1
Affected status: yes
Allele origin:
inherited
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Medical Genomics Laboratory, Department of Genetics UAB
Accession: SCV000999186.1
First in ClinVar: Nov 26, 2019 Last updated: Nov 26, 2019
Comment:
UAB-R4031-C
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Pathogenic
(Dec 17, 2021)
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criteria provided, single submitter
Method: clinical testing
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Cardiovascular phenotype
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
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Ambry Genetics
Accession: SCV000581338.5
First in ClinVar: Jul 01, 2017 Last updated: Nov 29, 2022 |
Comment:
The p.K1423E variant (also known as c.4267A>G), located in coding exon 31 of the NF1 gene, results from an A to G substitution at nucleotide … (more)
The p.K1423E variant (also known as c.4267A>G), located in coding exon 31 of the NF1 gene, results from an A to G substitution at nucleotide position 4267. The lysine at codon 1423 is replaced by glutamic acid, an amino acid with similar properties. This mutation was detected in an NF1 family with perfect segregation among six (four affected who met NIH diagnostic criteria and two unaffected) family members (Li Y, et al. Cell 1992; 69(2):275-81). This mutation has also been detected in several individuals who met NIH diagnostic criteria for Neurofibromatosis type 1 (NF1) (Cassiman C et al. Clin. Genet., 2017 Apr;91:529-535; Cannon A et al. Orphanet J Rare Dis, 2018 Feb;13:31; Upadhyaya M, et al. Hum. Mutat. 2008; 29(8):E103-11; Thomas L, et al. Hum. Mutat. 2012;33(12):1687-96; Pros E, et al. Hum. Mutat. 2008;29(9):E173-93; Wang Q, et al. Hum. Genet. 2003;112(2):117-23; Stella A et al. Genes (Basel), 2018 Apr;9:) and in several individuals with Noonan syndrome features (De Luca A, et al. Am. J. Hum. Genet. 2005; 77(6):1092-101). Functional analysis of this alteration in an in vitro Ras-activation assay shows significantly elevated levels of activated Ras compared to wild type (Thomas L et al. Hum. Mutat. 2012 Dec;33:1687-96). Based on the supporting evidence, p.K1423E is interpreted as a disease-causing mutation. (less)
Number of individuals with the variant: 1
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Pathogenic
(Dec 24, 2023)
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criteria provided, single submitter
Method: clinical testing
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Neurofibromatosis, type 1
Affected status: unknown
Allele origin:
germline
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Invitae
Accession: SCV000628580.8
First in ClinVar: Dec 26, 2017 Last updated: Feb 20, 2024 |
Comment:
This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 1423 of the NF1 protein … (more)
This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 1423 of the NF1 protein (p.Lys1423Glu). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with neurofibromatosis type 1 and neurofibromatosis-Noonan syndrome (PMID: 1568247, 11857752, 16380919, 16786508, 23244495, 27322474). In at least one individual the variant was observed to be de novo. It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 336). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. Experimental studies have shown that this missense change affects NF1 function (PMID: 1568247, 8264648, 22807134). For these reasons, this variant has been classified as Pathogenic. (less)
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Pathogenic
(Jan 01, 2017)
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criteria provided, single submitter
Method: clinical testing
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Axillary freckling
Cafe au lait spots, multiple Neurofibromatosis Optic nerve glioma
Affected status: yes
Allele origin:
unknown
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Centre for Mendelian Genomics, University Medical Centre Ljubljana
Accession: SCV000747346.1
First in ClinVar: May 12, 2018 Last updated: May 12, 2018 |
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Pathogenic
(Oct 31, 2018)
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criteria provided, single submitter
Method: clinical testing
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Neurofibromatosis, type 1
Neurofibromatosis, familial spinal Café-au-lait macules with pulmonary stenosis Neurofibromatosis-Noonan syndrome Juvenile myelomonocytic leukemia
Affected status: unknown
Allele origin:
unknown
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Fulgent Genetics, Fulgent Genetics
Accession: SCV000893435.1
First in ClinVar: Mar 31, 2019 Last updated: Mar 31, 2019 |
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Pathogenic
(Oct 19, 2018)
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criteria provided, single submitter
Method: clinical testing
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Neurofibromatosis, type 1
Affected status: yes
Allele origin:
unknown
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Centre for Mendelian Genomics, University Medical Centre Ljubljana
Accession: SCV001366253.2
First in ClinVar: Jul 04, 2020 Last updated: Dec 12, 2020 |
Comment:
This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PS1,PS3,PM1,PM2,PP3.
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Pathogenic
(Jun 03, 2020)
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criteria provided, single submitter
Method: clinical testing
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Neurofibromatosis, type 1
Affected status: yes
Allele origin:
unknown
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Baylor Genetics
Accession: SCV001523054.1
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
(Sep 11, 2020)
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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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Athena Diagnostics
Accession: SCV001476709.2
First in ClinVar: Jan 26, 2021 Last updated: Sep 19, 2021 |
Comment:
The frequency of this variant in the general population is consistent with pathogenicity (http://gnomad.broadinstitute.org). This variant has been identified in multiple unrelated individuals with clinical … (more)
The frequency of this variant in the general population is consistent with pathogenicity (http://gnomad.broadinstitute.org). This variant has been identified in multiple unrelated individuals with clinical features associated with this gene, including at least one apparent de novo. In some published literature, this variant is referred to as c.4330A>G, p.Lys1444Glu. Assessment of experimental evidence suggests this variant results in abnormal protein function. The variant significantly reduced the protein's ability to activate GTPase (PMID: 1568247, 8264648, 22807134). This is implicated in loss of p21 regulation, ras signaling interference and tumorigenesis. Computational tools predict that this variant is damaging. The variant is located in a region that is considered important for protein function and/or structure. (less)
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Pathogenic
(Mar 15, 2022)
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criteria provided, single submitter
Method: clinical testing
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Neurofibromatosis, type 1
Affected status: no
Allele origin:
germline
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Genome-Nilou Lab
Accession: SCV002560036.1
First in ClinVar: Aug 23, 2022 Last updated: Aug 23, 2022 |
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Pathogenic
(Sep 14, 2022)
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criteria provided, single submitter
Method: research
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Pheochromocytoma
(Somatic mutation)
Affected status: yes
Allele origin:
somatic
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Department of Medicine, University of Texas Health Science Center at San Antonio
Accession: SCV002571738.1
First in ClinVar: Nov 13, 2022 Last updated: Nov 13, 2022 |
Comment:
The following PIDs represent publications in which this variant has been detected and evaluated both in clinical contexts (patient-derived samples) and by in vitro experiments, … (more)
The following PIDs represent publications in which this variant has been detected and evaluated both in clinical contexts (patient-derived samples) and by in vitro experiments, and all of them support the pathogenic nature of this variant. These publications report on detection of this variant in germline disease (neurofibromatosis type 1) and as a somatic event in various cancer types. Moreover, there are multiple additional submissions to ClinVar that report this variant, mostly in the context of germline disease. We detected this variant as a somatic event accompanied by LOH of the wild-type allele in a patient that had a sporadic pheochromocytoma, but not neurofibromatosis type 1. (less)
Indication for testing: diagnosis of pheochromocytoma in a 39 year old patient
Age: 30-39 years
Sex: female
Ethnicity/Population group: unknown
Geographic origin: United States
Comment on evidence:
Following current guidelines, this triggers germline genetic testing. In this patient, this testing was negative. We extended the analysis to tumor tissue and identified the … (more)
Following current guidelines, this triggers germline genetic testing. In this patient, this testing was negative. We extended the analysis to tumor tissue and identified the variant described here and confirmed its status as somatic with loss of the wild-type allele. (less)
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Pathogenic
(Nov 03, 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: SCV000576670.8
First in ClinVar: May 22, 2017 Last updated: Mar 04, 2023 |
Comment:
Published functional studies demonstrate a damaging effect: reduced GTPase-activating protein activity (Li 1992, Poullet 1994, Thomas 2012); In-silico analysis is inconclusive as to whether the … (more)
Published functional studies demonstrate a damaging effect: reduced GTPase-activating protein activity (Li 1992, Poullet 1994, Thomas 2012); In-silico analysis is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 16513807, 22807134, 8264648, 27322474, 1568247, 14722917, 18546366, 9003501, 22155606, 19845691, 23244495, 16380919, 9219873, 11857752, 29673180, 29415745, 31595648, 29625052, 16786508, 31730495, 31776437, 25486365, 33443663) (less)
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Pathogenic
(Feb 12, 2023)
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criteria provided, single submitter
Method: clinical testing
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Juvenile myelomonocytic leukemia
Affected status: unknown
Allele origin:
unknown
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Baylor Genetics
Accession: SCV004190767.1
First in ClinVar: Dec 30, 2023 Last updated: Dec 30, 2023 |
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Pathogenic
(Sep 11, 2020)
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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: SCV004222170.1
First in ClinVar: Jan 06, 2024 Last updated: Jan 06, 2024 |
Comment:
This variant has been reported in multiple individuals and families with NF1 in the published literature (PMID: 29415745 (2018), 23244495 (2012), 18546366 (2008), 16380919 (2005), … (more)
This variant has been reported in multiple individuals and families with NF1 in the published literature (PMID: 29415745 (2018), 23244495 (2012), 18546366 (2008), 16380919 (2005), 11857752 (2002), 9003501 (1997), 1568247 (1992)), including in a family where it segregated with disease (PMID: 1568247 (1992)). This variant has been reported as a de novo event (PMID: 27322474 (2016)). Functional data suggest that the variant is detrimental to normal protein function (PMID: 22807134 (2012), 16513807 (2006), 9219873 (1997), 9003501 (1997), 8264648 (1994)). Based on the available information, this variant is classified as pathogenic. (less)
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Pathogenic
(Apr 17, 1992)
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no assertion criteria provided
Method: literature only
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NEUROFIBROMATOSIS, TYPE I
Affected status: not provided
Allele origin:
unknown
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OMIM
Accession: SCV000020508.4
First in ClinVar: Apr 04, 2013 Last updated: Apr 21, 2017 |
Comment on evidence:
In a patient with neurofibromatosis type I (NF1; 162200) and affected members of his family, Li et al. (1992) found an AAG-to-GAG transition at codon … (more)
In a patient with neurofibromatosis type I (NF1; 162200) and affected members of his family, Li et al. (1992) found an AAG-to-GAG transition at codon 1423 in the NF1 gene, resulting in the substitution of glutamic acid for lysine (K1423E). The same mutation or a mutation in the same codon leading to substitution of glutamine for lysine through an A-to-C transversion was also observed by Li et al. (1992) as a somatic mutation in adenocarcinoma of the colon, myelodysplastic syndrome, and anaplastic astrocytoma. (less)
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Uncertain significance
(Feb 02, 2017)
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no assertion criteria provided
Method: clinical testing
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Neurofibromatosis type 1
Affected status: yes
Allele origin:
germline
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Medical Genetics, University of Parma
Accession: SCV000588778.1
First in ClinVar: Aug 13, 2017 Last updated: Aug 13, 2017 |
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Pathogenic
(-)
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no assertion criteria provided
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
germline
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Genome Diagnostics Laboratory, Amsterdam University Medical Center
Study: VKGL Data-share Consensus
Accession: SCV001808027.1 First in ClinVar: Aug 25, 2021 Last updated: Aug 25, 2021 |
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Pathogenic
(-)
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no assertion criteria provided
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
germline
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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: SCV001975412.1 First in ClinVar: Oct 07, 2021 Last updated: Oct 07, 2021 |
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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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Decreased function
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Department of Medicine, University of Texas Health Science Center at San Antonio
Accession: SCV002571738.1
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Citations for germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
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Case report: Two sisters with a germline CHEK2 variant and distinct endocrine neoplasias. | Vallera RD | Frontiers in endocrinology | 2022 | DOI: 10.3389/fendo.2022.1024108 |
Expanding the Noonan spectrum/RASopathy NGS panel: Benefits of adding NF1 and SPRED1. | Witkowski L | Molecular genetics & genomic medicine | 2020 | PMID: 32107864 |
Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1. | Koczkowska M | Human mutation | 2020 | PMID: 31595648 |
Accurate Classification of NF1 Gene Variants in 84 Italian Patients with Neurofibromatosis Type 1. | Stella A | Genes | 2018 | PMID: 29673180 |
Cutaneous neurofibromas in Neurofibromatosis type I: a quantitative natural history study. | Cannon A | Orphanet journal of rare diseases | 2018 | PMID: 29415745 |
Choroidal abnormalities in café-au-lait syndromes: a new differential diagnostic tool? | Cassiman C | Clinical genetics | 2017 | PMID: 27716896 |
Comprehensive RNA Analysis of the NF1 Gene in Classically Affected NF1 Affected Individuals Meeting NIH Criteria has High Sensitivity and Mutation Negative Testing is Reassuring in Isolated Cases With Pigmentary Features Only. | Evans DG | EBioMedicine | 2016 | PMID: 27322474 |
Dual mTORC1/2 inhibition induces anti-proliferative effect in NF1-associated plexiform neurofibroma and malignant peripheral nerve sheath tumor cells. | Varin J | Oncotarget | 2016 | PMID: 26840085 |
The use of next-generation sequencing in molecular diagnosis of neurofibromatosis type 1: a validation study. | Maruoka R | Genetic testing and molecular biomarkers | 2014 | PMID: 25325900 |
Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with NF1 splice-site mutations? | Alkindy A | Human genomics | 2012 | PMID: 23244495 |
Assessment of the potential pathogenicity of missense mutations identified in the GTPase-activating protein (GAP)-related domain of the neurofibromatosis type-1 (NF1) gene. | Thomas L | Human mutation | 2012 | PMID: 22807134 |
Neurofibromatosis type 1-associated tumours: their somatic mutational spectrum and pathogenesis. | Laycock-van Spyk S | Human genomics | 2011 | PMID: 22155606 |
Nature and mRNA effect of 282 different NF1 point mutations: focus on splicing alterations. | Pros E | Human mutation | 2008 | PMID: 18546366 |
The heterogeneous nature of germline mutations in NF1 patients with malignant peripheral serve sheath tumours (MPNSTs). | Upadhyaya M | Human mutation | 2006 | PMID: 16786508 |
Effect of neurofibromatosis type I mutations on a novel pathway for adenylyl cyclase activation requiring neurofibromin and Ras. | Hannan F | Human molecular genetics | 2006 | PMID: 16513807 |
NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome. | De Luca A | American journal of human genetics | 2005 | PMID: 16380919 |
Characterization of the somatic mutational spectrum of the neurofibromatosis type 1 (NF1) gene in neurofibromatosis patients with benign and malignant tumors. | Upadhyaya M | Human mutation | 2004 | PMID: 14722917 |
Quantification of NF1 transcripts reveals novel highly expressed splice variants. | Vandenbroucke I | FEBS letters | 2002 | PMID: 12095621 |
NF1 mutations in neurofibromatosis 1 patients with plexiform neurofibromas. | Kluwe L | Human mutation | 2002 | PMID: 11857752 |
Mutations in the GAP-related domain impair the ability of neurofibromin to associate with microtubules. | Xu H | Brain research | 1997 | PMID: 9219873 |
Mutational and functional analysis of the neurofibromatosis type 1 (NF1) gene. | Upadhyaya M | Human genetics | 1997 | PMID: 9003501 |
Somatic mutations in the neurofibromatosis 1 gene in gliomas and primitive neuroectodermal tumours. | Thiel G | Anticancer research | 1995 | PMID: 8669813 |
Functional significance of lysine 1423 of neurofibromin and characterization of a second site suppressor which rescues mutations at this residue and suppresses RAS2Val-19-activated phenotypes. | Poullet P | Molecular and cellular biology | 1994 | PMID: 8264648 |
Somatic deletion of the neurofibromatosis type 1 gene in a neurofibrosarcoma supports a tumour suppressor gene hypothesis. | Legius E | Nature genetics | 1993 | PMID: 8499945 |
Mutations in the neurofibromatosis 1 gene in sporadic malignant melanoma cell lines. | Andersen LB | Nature genetics | 1993 | PMID: 8499944 |
Somatic mutations in the neurofibromatosis 1 gene in human tumors. | Li Y | Cell | 1992 | PMID: 1568247 |
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Text-mined citations for rs137854550 ...
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.