NM_004333.6(BRAF):c.1799T>A (p.Val600Glu) AND Non-small cell lung carcinoma

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
May 29, 2009
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:
RCV000037936.14

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]
Observations:
36

Condition(s)

Name:
Non-small cell lung carcinoma (NSCLC)
Synonyms:
Non-small cell lung cancer
Identifiers:
MONDO: MONDO:0005233; MeSH: D002289; MedGen: C0007131; Human Phenotype Ontology: HP:0030358

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000061601Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
no assertion criteria provided
Pathogenic
(May 29, 2009) 		somaticclinical testing

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

SCV000504259Database of Curated Mutations (DoCM)
no classification provided
not providedsomaticliterature 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
not providedsomaticnot provided4936not providednot providednot providedclinical testing

Citations

PubMed

Mutations of the BRAF gene in human cancer.

Davies H, Bignell GR, Cox C, Stephens P, Edkins S, Clegg S, Teague J, Woffendin H, Garnett MJ, Bottomley W, Davis N, Dicks E, Ewing R, Floyd Y, Gray K, Hall S, Hawes R, Hughes J, Kosmidou V, Menzies A, Mould C, Parker A, et al.

Nature. 2002 Jun 27;417(6892):949-54. Epub 2002 Jun 9.

PubMed [citation]
PMID:
12068308

Molecular characterization of acquired resistance to the BRAF inhibitor dabrafenib in a patient with BRAF-mutant non-small-cell lung cancer.

Rudin CM, Hong K, Streit M.

J Thorac Oncol. 2013 May;8(5):e41-2. doi: 10.1097/JTO.0b013e31828bb1b3. No abstract available.

PubMed [citation]
PMID:
23524406
PMCID:
PMC3634121

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000061601.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided49not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticnot providednot providednot providednot provided49not provided36not provided

From Database of Curated Mutations (DoCM), SCV000504259.1

#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: Nov 24, 2024