NM_004333.6(BRAF):c.1781A>G (p.Asp594Gly) AND Melanoma

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 14, 2015
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:: RCV000426339.2

Allele description [Variation Report for NM_004333.6(BRAF):c.1781A>G (p.Asp594Gly)]

NM_004333.6(BRAF):c.1781A>G (p.Asp594Gly)

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.1781A>G (p.Asp594Gly)

HGVS:

NC_000007.14:g.140753354T>C
NG_007873.3:g.176411A>G
NM_001354609.2:c.1781A>G
NM_001374244.1:c.1901A>G
NM_001374258.1:c.1901A>G
NM_001378467.1:c.1790A>G
NM_001378468.1:c.1781A>G
NM_001378469.1:c.1715A>G
NM_001378470.1:c.1679A>G
NM_001378471.1:c.1670A>G
NM_001378472.1:c.1625A>G
NM_001378473.1:c.1625A>G
NM_001378474.1:c.1781A>G
NM_001378475.1:c.1517A>G
NM_004333.6:c.1781A>GMANE SELECT
NP_001341538.1:p.Asp594Gly
NP_001361173.1:p.Asp634Gly
NP_001361187.1:p.Asp634Gly
NP_001365396.1:p.Asp597Gly
NP_001365397.1:p.Asp594Gly
NP_001365398.1:p.Asp572Gly
NP_001365399.1:p.Asp560Gly
NP_001365400.1:p.Asp557Gly
NP_001365401.1:p.Asp542Gly
NP_001365402.1:p.Asp542Gly
NP_001365403.1:p.Asp594Gly
NP_001365404.1:p.Asp506Gly
NP_004324.2:p.Asp594Gly
LRG_299t1:c.1781A>G
LRG_299:g.176411A>G
NC_000007.13:g.140453154T>C
NM_004333.4:c.1781A>G
P15056:p.Asp594Gly
c.1781A>G

Protein change:

D506G; ASP594GLY

Links:

UniProtKB: P15056#VAR_018624; OMIM: 164757.0011; dbSNP: rs121913338

NCBI 1000 Genomes Browser:

rs121913338

Molecular consequence:

NM_001354609.2:c.1781A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001374244.1:c.1901A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001374258.1:c.1901A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001378467.1:c.1790A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001378468.1:c.1781A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001378469.1:c.1715A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001378470.1:c.1679A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001378471.1:c.1670A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001378472.1:c.1625A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001378473.1:c.1625A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001378474.1:c.1781A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001378475.1:c.1517A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_004333.6:c.1781A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Melanoma
Identifiers:: MONDO: MONDO:0005105; MeSH: D008545; MedGen: C0025202; Human Phenotype Ontology: HP:0002861

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000504295	Database of Curated Mutations (DoCM)	no assertion criteria provided	Pathogenic (Jul 14, 2015)	somatic	literature only	PubMed (4) [See all records that cite these PMIDs] 14679157, 18794803, 12068308, 25157968 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000504295

Database of Curated Mutations (DoCM)

no assertion criteria provided

Pathogenic
(Jul 14, 2015)

somatic

literature only

PubMed (4)
[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
not provided	somatic	yes	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Determinants of BRAF mutations in primary melanomas.

Maldonado JL, Fridlyand J, Patel H, Jain AN, Busam K, Kageshita T, Ono T, Albertson DG, Pinkel D, Bastian BC.

J Natl Cancer Inst. 2003 Dec 17;95(24):1878-90.

PubMed [citation]

PMID:: 14679157

CRAF inhibition induces apoptosis in melanoma cells with non-V600E BRAF mutations.

Smalley KS, Xiao M, Villanueva J, Nguyen TK, Flaherty KT, Letrero R, Van Belle P, Elder DE, Wang Y, Nathanson KL, Herlyn M.

Oncogene. 2009 Jan 8;28(1):85-94. doi: 10.1038/onc.2008.362. Epub 2008 Sep 15.

PubMed [citation]

PMID:: 18794803
PMCID:: PMC2898184

See all PubMed Citations (4)

Details of each submission

From Database of Curated Mutations (DoCM), SCV000504295.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (4)

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

Last Updated: Apr 15, 2024

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