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NM_001374258.1(BRAF):c.1516G>A (p.Gly506Arg)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Mar 21, 2019)
Last evaluated:
Aug 20, 2010
Accession:
VCV000044801.1
Variation ID:
44801
Description:
single nucleotide variant
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NM_001374258.1(BRAF):c.1516G>A (p.Gly506Arg)

Allele ID
53968
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q34
Genomic location
7: 140781612 (GRCh38) GRCh38 UCSC
7: 140481412 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.140481412C>T
NC_000007.14:g.140781612C>T
NM_001374258.1:c.1516G>A MANE Select NP_001361187.1:p.Gly506Arg missense
... more HGVS
Protein change
G466R, G506R, G444R, G469R, G429R, G378R, G414R, G432R
Other names
-
Canonical SPDI
NC_000007.14:140781611:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA135079
dbSNP: rs121913353
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 Aug 20, 2010 RCV000037915.2
Likely pathogenic 1 no assertion criteria provided Jul 14, 2015 RCV000428876.1
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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
(Aug 20, 2010)
criteria provided, single submitter
Method: clinical testing
Non-small cell lung cancer
Allele origin: somatic
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000061577.4
Submitted: (Mar 21, 2019)
Evidence details
Publications
PubMed (2)
Comment:
The Gly466Arg variant has been previously reported in the literature in two mela nomas (due to a different nucleotide change, 1396G>C, Kumar 2003, Houben 2004). … (more)
Likely pathogenic
(Jul 14, 2015)
no assertion criteria provided
Method: literature only
Neoplasm of ovary
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000505613.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (1)
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
Constitutive activation of the Ras-Raf signaling pathway in metastatic melanoma is associated with poor prognosis. Houben R Journal of carcinogenesis 2004 PMID: 15046639
Activating BRAF and N-Ras mutations in sporadic primary melanomas: an inverse association with allelic loss on chromosome 9. Kumar R Oncogene 2003 PMID: 14681681
http://docm.genome.wustl.edu/variants/ENST00000288602:c.1396G>A - - - -

Text-mined citations for rs121913353...

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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