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NM_001374258.1(BRAF):c.1918G>A (p.Val640Met)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
3 (Most recent: Mar 31, 2021)
Last evaluated:
May 9, 2012
Accession:
VCV000044815.3
Variation ID:
44815
Description:
single nucleotide variant
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NM_001374258.1(BRAF):c.1918G>A (p.Val640Met)

Allele ID
53982
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q34
Genomic location
7: 140753337 (GRCh38) GRCh38 UCSC
7: 140453137 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.140453137C>T
NC_000007.14:g.140753337C>T
NM_001374258.1:c.1918G>A MANE Select NP_001361187.1:p.Val640Met missense
... more HGVS
Protein change
V600M, V548M, V640M, V512M, V603M, V566M, V563M, V578M
Other names
-
Canonical SPDI
NC_000007.14:140753336:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA135101
Genetic Testing Registry (GTR): GTR000522729
Genetic Testing Registry (GTR): GTR000569880
dbSNP: rs121913378
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter May 9, 2012 RCV000037934.2
Pathogenic 1 no assertion criteria provided Jul 14, 2015 RCV000429286.1
Uncertain significance 1 no assertion criteria provided - RCV001357636.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
BRAF Little evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
555 598

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(May 09, 2012)
criteria provided, single submitter
Method: clinical testing
Non-small cell lung cancer
Allele origin: somatic
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000061599.4
Submitted: (Mar 21, 2019)
Evidence details
Pathogenic
(Jul 14, 2015)
no assertion criteria provided
Method: literature only
Melanoma
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000504267.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (12)
Other databases
http://docm.genome.wustl.edu/var…
Uncertain significance
(-)
no assertion criteria provided
Method: clinical testing
not provided
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: SCV001553161.1
Submitted: (Mar 31, 2021)
Evidence details

Functional evidence

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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 this variant

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Title Author Journal Year Link
Prospective enterprise-level molecular genotyping of a cohort of cancer patients. MacConaill LE The Journal of molecular diagnostics : JMD 2014 PMID: 25157968
Clinical, pathologic, and biologic features associated with BRAF mutations in non-small cell lung cancer. Cardarella S Clinical cancer research : an official journal of the American Association for Cancer Research 2013 PMID: 23833300
Molecular characterization of acquired resistance to the BRAF inhibitor dabrafenib in a patient with BRAF-mutant non-small-cell lung cancer. Rudin CM Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer 2013 PMID: 23524406
Overwhelming response to Dabrafenib in a patient with double BRAF mutation (V600E; V600M) metastatic malignant melanoma. Ponti G Journal of hematology & oncology 2012 PMID: 23031422
A patient with BRAF V600E lung adenocarcinoma responding to vemurafenib. Gautschi O Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer 2012 PMID: 22743296
Kinase-impaired BRAF mutations in lung cancer confer sensitivity to dasatinib. Sen B Science translational medicine 2012 PMID: 22649091
Clinical characteristics of patients with lung adenocarcinomas harboring BRAF mutations. Paik PK Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2011 PMID: 21483012
Alterations in genes of the EGFR signaling pathway and their relationship to EGFR tyrosine kinase inhibitor sensitivity in lung cancer cell lines. Gandhi J PloS one 2009 PMID: 19238210
Genetic predictors of MEK dependence in non-small cell lung cancer. Pratilas CA Cancer research 2008 PMID: 19010912
Missense mutations of the BRAF gene in human lung adenocarcinoma. Naoki K Cancer research 2002 PMID: 12460919
BRAF and RAS mutations in human lung cancer and melanoma. Brose MS Cancer research 2002 PMID: 12460918
Mutations of the BRAF gene in human cancer. Davies H Nature 2002 PMID: 12068308
http://docm.genome.wustl.edu/variants/ENST00000288602:c.1798G>A - - - -

Text-mined citations for rs121913378...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Jul 07, 2021