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:

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000742861	Ambry Genetics	criteria provided, single submitter (Ambry exome assertion method (8-5-2015))	Pathogenic (Sep 1, 2017)	germline	clinical testing	PubMed (7) [See all records that cite these PMIDs] 23875798, 19206169, 15035987, 20859831, 27391121, 21063443, 18413255 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000742861

Ambry Genetics

criteria provided, single submitter

(Ambry exome assertion method (8-5-2015))

Pathogenic
(Sep 1, 2017)

germline

clinical testing

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

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
Caucasian/European/Scandinavian	germline	yes	1	not provided	not provided	1	not provided	clinical 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

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Caucasian/European/Scandinavian	1	not provided	not provided	clinical testing	PubMed (7)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	1	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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