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NM_001374258.1(BRAF):c.1511G>T (p.Gly504Val)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Dec 11, 2020)
Last evaluated:
Feb 28, 2020
Accession:
VCV000040364.2
Variation ID:
40364
Description:
single nucleotide variant
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NM_001374258.1(BRAF):c.1511G>T (p.Gly504Val)

Allele ID
48834
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q34
Genomic location
7: 140781617 (GRCh38) GRCh38 UCSC
7: 140481417 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.140481417C>A
NC_000007.14:g.140781617C>A
NG_007873.3:g.148148G>T
... more HGVS
Protein change
G464V, G427V, G376V, G442V, G412V, G430V, G467V, G504V
Other names
-
Canonical SPDI
NC_000007.14:140781616:C:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA135076
UniProtKB: P15056#VAR_018616
dbSNP: rs121913348
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 Jan 1, 2016 RCV000033302.4
Pathogenic 1 criteria provided, single submitter May 3, 2011 RCV000037914.2
Likely pathogenic 1 criteria provided, single submitter Feb 28, 2020 RCV001285364.1
Likely pathogenic 1 no assertion criteria provided May 13, 2016 RCV000442182.1
Likely pathogenic 1 no assertion criteria provided Jul 14, 2015 RCV000426199.1
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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
537 580

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Jan 01, 2016)
criteria provided, single submitter
Method: clinical testing
Rasopathy
Allele origin: germline
Invitae
Accession: SCV000288405.2
Submitted: (Jun 10, 2016)
Evidence details
Comment:
This sequence change replaces glycine with valine at codon 464 of the BRAF protein (p.Gly464Val). The glycine residue is highly conserved and there is a … (more)
Likely pathogenic
(Feb 28, 2020)
criteria provided, single submitter
Method: clinical testing
none provided
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories
Accession: SCV001471782.1
Submitted: (Dec 11, 2020)
Evidence details
Comment:
The BRAF c.1391G>T; p.Gly464Val variant (rs121913348) is reported in the literature in individuals affected with cardio-facio-cutaneous syndrome (Rodriguez-Viciana 2008, Yoon 2007). This variant is reported … (more)
Pathogenic
(May 03, 2011)
criteria provided, single submitter
Method: clinical testing
Non-small cell lung cancer
Allele origin: somatic
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000061576.4
Submitted: (Mar 21, 2019)
Evidence details
Publications
PubMed (3)
Comment:
Somatic BRAF variants have been identified in up to 3% of cases of lung adenocar cinoma (Davies 2002).
Likely pathogenic
(May 13, 2016)
no assertion criteria provided
Method: literature only
Neoplasm
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000505048.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (1)
Other databases
http://docm.genome.wustl.edu/var…
Likely pathogenic
(Jul 14, 2015)
no assertion criteria provided
Method: literature only
Breast neoplasm
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000505049.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (3)
Other databases
http://docm.genome.wustl.edu/var…

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
Mutation profiling identifies numerous rare drug targets and distinct mutation patterns in different clinical subtypes of breast cancers. Santarpia L Breast cancer research and treatment 2012 PMID: 22538770
Distinct gene mutation profiles among luminal-type and basal-type breast cancer cell lines. Hollestelle A Breast cancer research and treatment 2010 PMID: 19593635
Phosphatidylinositol-3-OH kinase or RAS pathway mutations in human breast cancer cell lines. Hollestelle A Molecular cancer research : MCR 2007 PMID: 17314276
Mechanism of activation of the RAF-ERK signaling pathway by oncogenic mutations of B-RAF. Wan PT Cell 2004 PMID: 15035987
Mutations of the BRAF gene in human cancer. Davies H Nature 2002 PMID: 12068308
http://docm.genome.wustl.edu/variants/ENST00000288602:c.1391G>T - - - -

Text-mined citations for rs121913348...

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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 Sep 07, 2021