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NM_004333.6(BRAF):c.1914T>A (p.Asp638Glu) AND Inborn genetic diseases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 1, 2017
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:
RCV000622900.3

Allele description [Variation Report for NM_004333.6(BRAF):c.1914T>A (p.Asp638Glu)]

NM_004333.6(BRAF):c.1914T>A (p.Asp638Glu)

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.1914T>A (p.Asp638Glu)
HGVS:
  • NC_000007.14:g.140749365A>T
  • NG_007873.3:g.180400T>A
  • NM_001354609.2:c.1914T>A
  • NM_001374244.1:c.2034T>A
  • NM_001374258.1:c.2034T>A
  • NM_001378467.1:c.1923T>A
  • NM_001378468.1:c.1914T>A
  • NM_001378469.1:c.1848T>A
  • NM_001378470.1:c.1812T>A
  • NM_001378471.1:c.1803T>A
  • NM_001378472.1:c.1758T>A
  • NM_001378473.1:c.1758T>A
  • NM_001378474.1:c.1914T>A
  • NM_001378475.1:c.1650T>A
  • NM_004333.6:c.1914T>AMANE SELECT
  • NP_001341538.1:p.Asp638Glu
  • NP_001361173.1:p.Asp678Glu
  • NP_001361187.1:p.Asp678Glu
  • NP_001365396.1:p.Asp641Glu
  • NP_001365397.1:p.Asp638Glu
  • NP_001365398.1:p.Asp616Glu
  • NP_001365399.1:p.Asp604Glu
  • NP_001365400.1:p.Asp601Glu
  • NP_001365401.1:p.Asp586Glu
  • NP_001365402.1:p.Asp586Glu
  • NP_001365403.1:p.Asp638Glu
  • NP_001365404.1:p.Asp550Glu
  • NP_004324.2:p.Asp638Glu
  • LRG_299t1:c.1914T>A
  • LRG_299:g.180400T>A
  • NC_000007.13:g.140449165A>T
  • NM_004333.4:c.1914T>A
  • P15056:p.Asp638Glu
Protein change:
D550E; ASP638GLU
Links:
UniProtKB: P15056#VAR_058630; OMIM: 164757.0021; dbSNP: rs180177042
NCBI 1000 Genomes Browser:
rs180177042
Molecular consequence:
  • NM_001354609.2:c.1914T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374244.1:c.2034T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374258.1:c.2034T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378467.1:c.1923T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378468.1:c.1914T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378469.1:c.1848T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378470.1:c.1812T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378471.1:c.1803T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378472.1:c.1758T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378473.1:c.1758T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378474.1:c.1914T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378475.1:c.1650T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004333.6:c.1914T>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000742861Ambry Genetics
criteria provided, single submitter

(Ambry exome assertion method (8-5-2015))
Pathogenic
(Sep 1, 2017)
germlineclinical testing

PubMed (7)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Caucasian/European/Scandinaviangermlineyes1not providednot provided1not providedclinical testing

Citations

PubMed

The RASopathies.

Rauen KA.

Annu Rev Genomics Hum Genet. 2013;14:355-69. doi: 10.1146/annurev-genom-091212-153523. Epub 2013 Jul 15. Review.

PubMed [citation]
PMID:
23875798
PMCID:
PMC4115674

Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum.

Sarkozy A, Carta C, Moretti S, Zampino G, Digilio MC, Pantaleoni F, Scioletti AP, Esposito G, Cordeddu V, Lepri F, Petrangeli V, Dentici ML, Mancini GM, Selicorni A, Rossi C, Mazzanti L, Marino B, Ferrero GB, Silengo MC, Memo L, Stanzial F, Faravelli F, et al.

Hum Mutat. 2009 Apr;30(4):695-702. doi: 10.1002/humu.20955.

PubMed [citation]
PMID:
19206169
PMCID:
PMC4028130
See all PubMed Citations (7)

Details of each submission

From Ambry Genetics, SCV000742861.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Caucasian/European/Scandinavian1not providednot providedclinical testing PubMed (7)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Jun 23, 2024