NM_002755.4(MAP2K1):c.171G>C (p.Lys57Asn) AND Melanoma

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Dec 26, 2014
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:: RCV000430292.1

Allele description [Variation Report for NM_002755.4(MAP2K1):c.171G>C (p.Lys57Asn)]

NM_002755.4(MAP2K1):c.171G>C (p.Lys57Asn)

Gene:

MAP2K1:mitogen-activated protein kinase kinase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q22.31

Genomic location:

Preferred name:

NM_002755.4(MAP2K1):c.171G>C (p.Lys57Asn)

HGVS:

NC_000015.10:g.66435117G>C
NG_008305.1:g.53245G>C
NM_002755.4:c.171G>CMANE SELECT
NP_002746.1:p.Lys57Asn
LRG_725:g.53245G>C
NC_000015.9:g.66727455G>C

Protein change:

K57N

Links:

dbSNP: rs869025608

NCBI 1000 Genomes Browser:

rs869025608

Molecular consequence:

NM_002755.4:c.171G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000505221	Database of Curated Mutations (DoCM)	no assertion criteria provided	Likely pathogenic (Dec 26, 2014)	somatic	literature only	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000505221

Database of Curated Mutations (DoCM)

no assertion criteria provided

Likely pathogenic
(Dec 26, 2014)

somatic

literature only

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

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

Phase II trial of MEK inhibitor selumetinib (AZD6244, ARRY-142886) in patients with BRAFV600E/K-mutated melanoma.

Catalanotti F, Solit DB, Pulitzer MP, Berger MF, Scott SN, Iyriboz T, Lacouture ME, Panageas KS, Wolchok JD, Carvajal RD, Schwartz GK, Rosen N, Chapman PB.

Clin Cancer Res. 2013 Apr 15;19(8):2257-64. doi: 10.1158/1078-0432.CCR-12-3476. Epub 2013 Feb 26.

PubMed [citation]

PMID:: 23444215
PMCID:: PMC3932005

Details of each submission

From Database of Curated Mutations (DoCM), SCV000505221.1

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

#	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: Jul 16, 2023

ClinVar

Relating variation to medicine