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NM_004333.6(BRAF):c.1799T>A (p.Val600Glu) AND Neoplasm

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
May 13, 2016
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000443448.9

Allele description [Variation Report for NM_004333.6(BRAF):c.1799T>A (p.Val600Glu)]

NM_004333.6(BRAF):c.1799T>A (p.Val600Glu)

Gene:
BRAF:B-Raf proto-oncogene, serine/threonine kinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q34
Genomic location:
Preferred name:
NM_004333.6(BRAF):c.1799T>A (p.Val600Glu)
HGVS:
  • NC_000007.14:g.140753336A>T
  • NG_007873.3:g.176429T>A
  • NM_001354609.2:c.1799T>A
  • NM_001374244.1:c.1919T>A
  • NM_001374258.1:c.1919T>A
  • NM_001378467.1:c.1808T>A
  • NM_001378468.1:c.1799T>A
  • NM_001378469.1:c.1733T>A
  • NM_001378470.1:c.1697T>A
  • NM_001378471.1:c.1688T>A
  • NM_001378472.1:c.1643T>A
  • NM_001378473.1:c.1643T>A
  • NM_001378474.1:c.1799T>A
  • NM_001378475.1:c.1535T>A
  • NM_004333.6:c.1799T>AMANE SELECT
  • NP_001341538.1:p.Val600Glu
  • NP_001361173.1:p.Val640Glu
  • NP_001361187.1:p.Val640Glu
  • NP_001365396.1:p.Val603Glu
  • NP_001365397.1:p.Val600Glu
  • NP_001365398.1:p.Val578Glu
  • NP_001365399.1:p.Val566Glu
  • NP_001365400.1:p.Val563Glu
  • NP_001365401.1:p.Val548Glu
  • NP_001365402.1:p.Val548Glu
  • NP_001365403.1:p.Val600Glu
  • NP_001365404.1:p.Val512Glu
  • NP_004324.2:p.Val600Glu
  • NP_004324.2:p.Val600Glu
  • LRG_299t1:c.1799T>A
  • LRG_299:g.176429T>A
  • LRG_299p1:p.Val600Glu
  • NC_000007.12:g.140099605A>T
  • NC_000007.13:g.140453136A>T
  • NM_004333.4:c.1799T>A
  • NM_004333:c.1799T>A
  • P15056:p.Val600Glu
  • c.1799T>A
  • p.V600E
Protein change:
V512E; VAL600GLU
Links:
UniProtKB: P15056#VAR_018629; OMIM: 164757.0001; dbSNP: rs113488022
NCBI 1000 Genomes Browser:
rs113488022
Molecular consequence:
  • NM_001354609.2:c.1799T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374244.1:c.1919T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374258.1:c.1919T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378467.1:c.1808T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378468.1:c.1799T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378469.1:c.1733T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378470.1:c.1697T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378471.1:c.1688T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378472.1:c.1643T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378473.1:c.1643T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378474.1:c.1799T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378475.1:c.1535T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004333.6:c.1799T>A - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
  • Increased function
  • gain_of_function_variant [Sequence Ontology: SO:0002053]

Condition(s)

Name:
Neoplasm
Synonyms:
Neoplasms; Neoplasm (disease)
Identifiers:
MONDO: MONDO:0005070; MeSH: D009369; MedGen: C0027651; Human Phenotype Ontology: HP:0002664

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000504254Database of Curated Mutations (DoCM)
no assertion criteria provided
Likely pathogenic
(May 13, 2016) 		somaticliterature only

PubMed (1)
[See all records that cite this PMID]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticyesnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Mechanism of activation of the RAF-ERK signaling pathway by oncogenic mutations of B-RAF.

Wan PT, Garnett MJ, Roe SM, Lee S, Niculescu-Duvaz D, Good VM, Jones CM, Marshall CJ, Springer CJ, Barford D, Marais R; Cancer Genome Project..

Cell. 2004 Mar 19;116(6):855-67.

PubMed [citation]
PMID:
15035987

Details of each submission

From Database of Curated Mutations (DoCM), SCV000504254.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 1, 2024