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

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
May 23, 2022
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV004018627.1

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:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005022010Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely pathogenic
(May 23, 2022) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV005022010.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

ASSESSED FOR SOMATIC SAMPLE ONLY. FOR ANY GERMLINE INDICATION, PLEASE REASSESS.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 12, 2024