NM_004333.6(BRAF):c.1798_1799delinsAA (p.Val600Lys) 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:: RCV000422502.1

Allele description [Variation Report for NM_004333.6(BRAF):c.1798_1799delinsAA (p.Val600Lys)]

NM_004333.6(BRAF):c.1798_1799delinsAA (p.Val600Lys)

Gene:

BRAF:B-Raf proto-oncogene, serine/threonine kinase [Gene - OMIM - HGNC]

Variant type:

Indel

Cytogenetic location:

7q34

Genomic location:

Preferred name:

NM_004333.6(BRAF):c.1798_1799delinsAA (p.Val600Lys)

HGVS:

NC_000007.14:g.140753336_140753337delinsTT
NG_007873.3:g.176428_176429delinsAA
NM_001354609.2:c.1798_1799delinsAA
NM_001374244.1:c.1918_1919delinsAA
NM_001374258.1:c.1918_1919delinsAA
NM_001378467.1:c.1807_1808delinsAA
NM_001378468.1:c.1798_1799delinsAA
NM_001378469.1:c.1732_1733delinsAA
NM_001378470.1:c.1696_1697delinsAA
NM_001378471.1:c.1687_1688delinsAA
NM_001378472.1:c.1642_1643delinsAA
NM_001378473.1:c.1642_1643delinsAA
NM_001378474.1:c.1798_1799delinsAA
NM_001378475.1:c.1534_1535delinsAA
NM_004333.6:c.1798_1799delinsAAMANE SELECT
NP_001341538.1:p.Val600Lys
NP_001361173.1:p.Val640Lys
NP_001361187.1:p.Val640Lys
NP_001365396.1:p.Val603Lys
NP_001365397.1:p.Val600Lys
NP_001365398.1:p.Val578Lys
NP_001365399.1:p.Val566Lys
NP_001365400.1:p.Val563Lys
NP_001365401.1:p.Val548Lys
NP_001365402.1:p.Val548Lys
NP_001365403.1:p.Val600Lys
NP_001365404.1:p.Val512Lys
NP_004324.2:p.Val600Lys
LRG_299t1:c.1798_1799delinsAA
LRG_299:g.176428_176429delinsAA
NC_000007.13:g.140453136_140453137delinsTT

Protein change:

V512K

Links:

dbSNP: rs121913227

NCBI 1000 Genomes Browser:

rs121913227

Molecular consequence:

NM_001354609.2:c.1798_1799delinsAA - missense variant - [Sequence Ontology: SO:0001583]
NM_001374244.1:c.1918_1919delinsAA - missense variant - [Sequence Ontology: SO:0001583]
NM_001374258.1:c.1918_1919delinsAA - missense variant - [Sequence Ontology: SO:0001583]
NM_001378467.1:c.1807_1808delinsAA - missense variant - [Sequence Ontology: SO:0001583]
NM_001378468.1:c.1798_1799delinsAA - missense variant - [Sequence Ontology: SO:0001583]
NM_001378469.1:c.1732_1733delinsAA - missense variant - [Sequence Ontology: SO:0001583]
NM_001378470.1:c.1696_1697delinsAA - missense variant - [Sequence Ontology: SO:0001583]
NM_001378471.1:c.1687_1688delinsAA - missense variant - [Sequence Ontology: SO:0001583]
NM_001378472.1:c.1642_1643delinsAA - missense variant - [Sequence Ontology: SO:0001583]
NM_001378473.1:c.1642_1643delinsAA - missense variant - [Sequence Ontology: SO:0001583]
NM_001378474.1:c.1798_1799delinsAA - missense variant - [Sequence Ontology: SO:0001583]
NM_001378475.1:c.1534_1535delinsAA - missense variant - [Sequence Ontology: SO:0001583]
NM_004333.6:c.1798_1799delinsAA - 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
SCV000504266	Database of Curated Mutations (DoCM)	no assertion criteria provided	Pathogenic (Jul 14, 2015)	somatic	literature only	PubMed (17) [See all records that cite these PMIDs] 14679157, 22972589, 21639808, 24508103, 23918947, 22805292, 25157968, 25656898, 12068308, 20818844, 22608338, 20630094, 22048237, 22356324, 22536370, 22735384, 22663011 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000504266

Database of Curated Mutations (DoCM)

no assertion criteria provided

Pathogenic
(Jul 14, 2015)

somatic

literature only

PubMed (17)
[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

Clinical responses to selumetinib (AZD6244; ARRY-142886)-based combination therapy stratified by gene mutations in patients with metastatic melanoma.

Patel SP, Lazar AJ, Papadopoulos NE, Liu P, Infante JR, Glass MR, Vaughn CS, LoRusso PM, Cohen RB, Davies MA, Kim KB.

Cancer. 2013 Feb 15;119(4):799-805. doi: 10.1002/cncr.27790. Epub 2012 Sep 12.

PubMed [citation]

PMID:: 22972589

See all PubMed Citations (17)

Details of each submission

From Database of Curated Mutations (DoCM), SCV000504266.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (17)

#	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: Nov 3, 2024

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