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NM_004333.6(BRAF):c.1914T>G (p.Asp638Glu) AND Cardiofaciocutaneous syndrome 1

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Aug 16, 2018
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:
RCV000767527.3

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

NM_004333.6(BRAF):c.1914T>G (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>G (p.Asp638Glu)
Other names:
p.D638E:GAT>GAG
HGVS:
  • NC_000007.14:g.140749365A>C
  • NG_007873.3:g.180400T>G
  • NM_001354609.2:c.1914T>G
  • NM_001374244.1:c.2034T>G
  • NM_001374258.1:c.2034T>G
  • NM_001378467.1:c.1923T>G
  • NM_001378468.1:c.1914T>G
  • NM_001378469.1:c.1848T>G
  • NM_001378470.1:c.1812T>G
  • NM_001378471.1:c.1803T>G
  • NM_001378472.1:c.1758T>G
  • NM_001378473.1:c.1758T>G
  • NM_001378474.1:c.1914T>G
  • NM_001378475.1:c.1650T>G
  • NM_004333.6:c.1914T>GMANE 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>G
  • LRG_299:g.180400T>G
  • NC_000007.13:g.140449165A>C
  • NM_004333.4:c.1914T>G
  • NM_004333.5:c.1914T>G
  • NM_004333.6:c.1914T>G
  • P15056:p.Asp638Glu
Protein change:
D550E
Links:
UniProtKB: P15056#VAR_058630; dbSNP: rs180177042
NCBI 1000 Genomes Browser:
rs180177042
Molecular consequence:
  • NM_001354609.2:c.1914T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374244.1:c.2034T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374258.1:c.2034T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378467.1:c.1923T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378468.1:c.1914T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378469.1:c.1848T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378470.1:c.1812T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378471.1:c.1803T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378472.1:c.1758T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378473.1:c.1758T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378474.1:c.1914T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378475.1:c.1650T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004333.6:c.1914T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiofaciocutaneous syndrome 1 (CFC1)
Synonyms:
Congenital heart defects characteristic facial appearance ectodermal abnormalities and growth failure
Identifiers:
MONDO: MONDO:0007265; MedGen: CN029449; Orphanet: 1340; OMIM: 115150

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000898145Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals
no assertion criteria provided

(ACMG Guidelines, 2015)		Pathogenic
(Sep 21, 2018) 		de novoclinical testing

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

SCV001167600Genomic Medicine Lab, University of California San Francisco - CSER
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Aug 16, 2018) 		de novoclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals, SCV000898145.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot providednot providednot providednot providednot provided

From Genomic Medicine Lab, University of California San Francisco - CSER, SCV001167600.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 18, 2024