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NM_004333.4(BRAF):c.1781A>T (p.Asp594Val)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
3 (Most recent: Mar 28, 2019)
Last evaluated:
Dec 26, 2018
Accession:
VCV000375946.2
Variation ID:
375946
Description:
single nucleotide variant
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NM_004333.4(BRAF):c.1781A>T (p.Asp594Val)

Allele ID
362825
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q34
Genomic location
7: 140753354 (GRCh38) GRCh38 UCSC
7: 140453154 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.140453154T>A
NC_000007.14:g.140753354T>A
LRG_299t1:c.1781A>T LRG_299p1:p.Asp594Val
... more HGVS
Protein change
D594V
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs121913338
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Dec 26, 2018 RCV000796335.1
Pathogenic 1 no assertion criteria provided Oct 2, 2014 RCV000421094.1
Pathogenic 1 no assertion criteria provided Jul 14, 2015 RCV000434803.1
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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
356 395

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Dec 26, 2018)
criteria provided, single submitter
Method: clinical testing
Rasopathy
Allele origin: germline
Invitae
Accession: SCV000935844.1
Submitted: (Mar 28, 2019)
Evidence details
Publications
PubMed (4)
Comment:
This sequence change replaces aspartic acid with valine at codon 594 of the BRAF protein (p.Asp594Val). The aspartic acid residue is highly conserved and there ... (more)
Pathogenic
(Oct 02, 2014)
no assertion criteria provided
Method: literature only
Neoplasm of the large intestine
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000504289.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (8)
Other databases
http://docm.genome.wustl.edu/v...
Pathogenic
(Jul 14, 2015)
no assertion criteria provided
Method: literature only
Melanoma
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000504290.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (3)
Other databases
http://docm.genome.wustl.edu/v...

Citations for this variant

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
The road to resistance: EGFR mutation and cetuximab. Bardelli A Nature medicine 2012 PMID: 22310681
Prognostic vs predictive molecular biomarkers in colorectal cancer: is KRAS and BRAF wild type status required for anti-EGFR therapy? Rizzo S Cancer treatment reviews 2010 PMID: 21129611
Prognostic and predictive biomarkers in resected colon cancer: current status and future perspectives for integrating genomics into biomarker discovery. Tejpar S The oncologist 2010 PMID: 20350999
Kinase-dead BRAF and oncogenic RAS cooperate to drive tumor progression through CRAF. Heidorn SJ Cell 2010 PMID: 20141835
Insights into the molecular function of the inactivating mutations of B-Raf involving the DFG motif. Moretti S Biochimica et biophysica acta 2009 PMID: 19735675
Clinical biomarkers in oncology: focus on colorectal cancer. De Roock W Molecular diagnosis & therapy 2009 PMID: 19537845
Kinase-activating and kinase-impaired cardio-facio-cutaneous syndrome alleles have activity during zebrafish development and are sensitive to small molecule inhibitors. Anastasaki C Human molecular genetics 2009 PMID: 19376813
Biochemical characterization of novel germline BRAF and MEK mutations in cardio-facio-cutaneous syndrome. Rodriguez-Viciana P Methods in enzymology 2008 PMID: 18413255
Mechanism of activation of the RAF-ERK signaling pathway by oncogenic mutations of B-RAF. Wan PT Cell 2004 PMID: 15035987
Determinants of BRAF mutations in primary melanomas. Maldonado JL Journal of the National Cancer Institute 2003 PMID: 14679157
Functional analysis of mutations within the kinase activation segment of B-Raf in human colorectal tumors. Ikenoue T Cancer research 2003 PMID: 14678966
Similarity of the phenotypic patterns associated with BRAF and KRAS mutations in colorectal neoplasia. Yuen ST Cancer research 2002 PMID: 12438234
Mutations of the BRAF gene in human cancer. Davies H Nature 2002 PMID: 12068308
http://docm.genome.wustl.edu/variants/ENST00000288602:c.1781A>T - - - -

Record last updated Aug 14, 2019