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NM_002755.4(MAP2K1):c.157T>C (p.Phe53Leu) 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:
RCV000435966.1

Allele description [Variation Report for NM_002755.4(MAP2K1):c.157T>C (p.Phe53Leu)]

NM_002755.4(MAP2K1):c.157T>C (p.Phe53Leu)

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.157T>C (p.Phe53Leu)
HGVS:
  • NC_000015.10:g.66435103T>C
  • NG_008305.1:g.53231T>C
  • NM_002755.4:c.157T>CMANE SELECT
  • NP_002746.1:p.Phe53Leu
  • LRG_725:g.53231T>C
  • NC_000015.9:g.66727441T>C
Protein change:
F53L
Links:
dbSNP: rs1057519728
NCBI 1000 Genomes Browser:
rs1057519728
Molecular consequence:
  • NM_002755.4:c.157T>C - 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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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000504531Database of Curated Mutations (DoCM)
no assertion criteria provided
Pathogenic
(Oct 2, 2014) 		somaticliterature only

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

Citation Link

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Summary from all submissions

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

Citations

PubMed

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), SCV000504531.1

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

Last Updated: Jul 16, 2023