NM_002755.4(MAP2K1):c.790C>T (p.Pro264Ser) AND Melanoma

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Oct 2, 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:: RCV000430494.1

Allele description [Variation Report for NM_002755.4(MAP2K1):c.790C>T (p.Pro264Ser)]

NM_002755.4(MAP2K1):c.790C>T (p.Pro264Ser)

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.790C>T (p.Pro264Ser)

HGVS:

NC_000015.10:g.66485086C>T
NG_008305.1:g.103214C>T
NM_002755.4:c.790C>TMANE SELECT
NP_002746.1:p.Pro264Ser
LRG_725:g.103214C>T
NC_000015.9:g.66777424C>T

Protein change:

P264S

Links:

dbSNP: rs1057519734

NCBI 1000 Genomes Browser:

rs1057519734

Molecular consequence:

NM_002755.4:c.790C>T - 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
SCV000504553	Database of Curated Mutations (DoCM)	no assertion criteria provided	Pathogenic (Oct 2, 2014)	somatic	literature only	PubMed (2) [See all records that cite these PMIDs] 22622578, 22197931 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000504553

Database of Curated Mutations (DoCM)

no assertion criteria provided

Pathogenic
(Oct 2, 2014)

somatic

literature only

PubMed (2)
[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

Melanoma genome sequencing reveals frequent PREX2 mutations.

Berger MF, Hodis E, Heffernan TP, Deribe YL, Lawrence MS, Protopopov A, Ivanova E, Watson IR, Nickerson E, Ghosh P, Zhang H, Zeid R, Ren X, Cibulskis K, Sivachenko AY, Wagle N, Sucker A, Sougnez C, Onofrio R, Ambrogio L, Auclair D, Fennell T, et al.

Nature. 2012 May 9;485(7399):502-6. doi: 10.1038/nature11071.

PubMed [citation]

PMID:: 22622578
PMCID:: PMC3367798

Exome sequencing identifies recurrent somatic MAP2K1 and MAP2K2 mutations in melanoma.

Nikolaev SI, Rimoldi D, Iseli C, Valsesia A, Robyr D, Gehrig C, Harshman K, Guipponi M, Bukach O, Zoete V, Michielin O, Muehlethaler K, Speiser D, Beckmann JS, Xenarios I, Halazonetis TD, Jongeneel CV, Stevenson BJ, Antonarakis SE.

Nat Genet. 2011 Dec 25;44(2):133-9. doi: 10.1038/ng.1026.

PubMed [citation]

PMID:: 22197931

Details of each submission

From Database of Curated Mutations (DoCM), SCV000504553.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

#	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

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