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NM_001374258.1(BRAF):c.1525G>A (p.Gly509Arg)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Mar 21, 2019)
Last evaluated:
Oct 10, 2013
Accession:
VCV000177775.1
Variation ID:
177775
Description:
single nucleotide variant
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NM_001374258.1(BRAF):c.1525G>A (p.Gly509Arg)

Allele ID
174179
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q34
Genomic location
7: 140781603 (GRCh38) GRCh38 UCSC
7: 140481403 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.140481403C>T
NC_000007.14:g.140781603C>T
NM_001374258.1:c.1525G>A MANE Select NP_001361187.1:p.Gly509Arg missense
... more HGVS
Protein change
G469R, G447R, G417R, G432R, G472R, G381R, G435R, G509R
Other names
-
Canonical SPDI
NC_000007.14:140781602:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA180746
UniProtKB: P15056#VAR_018622
dbSNP: rs121913357
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 Oct 10, 2013 RCV000154398.1
Likely pathogenic 1 no assertion criteria provided Jul 14, 2015 RCV000433832.1
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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
554 597

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Oct 10, 2013)
criteria provided, single submitter
Method: clinical testing
Non-small cell lung cancer
(Somatic mutation)
Allele origin: somatic
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000204065.3
Submitted: (Mar 21, 2019)
Evidence details
Publications
PubMed (1)
Likely pathogenic
(Jul 14, 2015)
no assertion criteria provided
Method: literature only
Melanoma
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000505605.1
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
Mutations of the BRAF gene in human cancer. Davies H Nature 2002 PMID: 12068308
http://docm.genome.wustl.edu/variants/ENST00000288602:c.1405G>A - - - -

Text-mined citations for rs121913357...

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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