NM_002755.3(MAP2K1):c.607G>A (p.Glu203Lys) AND Malignant melanoma

Clinical significance:Pathogenic (Last evaluated: Oct 2, 2014)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000418114.1

Allele description

NM_002755.3(MAP2K1):c.607G>A (p.Glu203Lys)

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_002755.3(MAP2K1):c.607G>A (p.Glu203Lys)
HGVS:
  • NC_000015.10:g.66481793G>A
  • NG_008305.1:g.99921G>A
  • NM_002755.3:c.607G>A
  • NP_002746.1:p.Glu203Lys
  • LRG_725t1:c.607G>A
  • LRG_725:g.99921G>A
  • LRG_725p1:p.Glu203Lys
  • NC_000015.9:g.66774131G>A
Protein change:
E203K
Links:
dbSNP: rs1057519733
NCBI 1000 Genomes Browser:
rs1057519733
Molecular consequence:
  • NM_002755.3:c.607G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Malignant melanoma
Synonyms:
Melanoma; Malignant melanoma, somatic
Identifiers:
MeSH: D008545; MedGen: C0025202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000504552Database of Curated Mutations (DoCM)no assertion criteria providedPathogenic
(Oct 2, 2014)
somaticliterature only

PubMed (3)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticyesnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

MEK1 mutations confer resistance to MEK and B-RAF inhibition.

Emery CM, Vijayendran KG, Zipser MC, Sawyer AM, Niu L, Kim JJ, Hatton C, Chopra R, Oberholzer PA, Karpova MB, MacConaill LE, Zhang J, Gray NS, Sellers WR, Dummer R, Garraway LA.

Proc Natl Acad Sci U S A. 2009 Dec 1;106(48):20411-6. doi: 10.1073/pnas.0905833106. Epub 2009 Nov 13.

PubMed [citation]
PMID:
19915144
PMCID:
PMC2777185

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
See all PubMed Citations (3)

Details of each submission

From Database of Curated Mutations (DoCM), SCV000504552.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 22, 2017

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