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NM_002755.4(MAP2K1):c.167A>C (p.Gln56Pro) 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:
RCV000429601.9

Allele description [Variation Report for NM_002755.4(MAP2K1):c.167A>C (p.Gln56Pro)]

NM_002755.4(MAP2K1):c.167A>C (p.Gln56Pro)

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.167A>C (p.Gln56Pro)
HGVS:
  • NC_000015.10:g.66435113A>C
  • NG_008305.1:g.53241A>C
  • NM_002755.4:c.167A>CMANE SELECT
  • NP_002746.1:p.Gln56Pro
  • NP_002746.1:p.Gln56Pro
  • LRG_725t1:c.167A>C
  • LRG_725:g.53241A>C
  • LRG_725p1:p.Gln56Pro
  • NC_000015.9:g.66727451A>C
  • NM_002755.3:c.167A>C
Protein change:
Q56P; GLN56PRO
Links:
OMIM: 176872.0006; dbSNP: rs1057519729
NCBI 1000 Genomes Browser:
rs1057519729
Molecular consequence:
  • NM_002755.4:c.167A>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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000504533Database of Curated Mutations (DoCM)
no assertion criteria provided
Likely pathogenic
(Dec 26, 2014) 		somaticliterature only

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

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Summary from all submissions

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

Citations

PubMed

Pharmacodynamic effects and mechanisms of resistance to vemurafenib in patients with metastatic melanoma.

Trunzer K, Pavlick AC, Schuchter L, Gonzalez R, McArthur GA, Hutson TE, Moschos SJ, Flaherty KT, Kim KB, Weber JS, Hersey P, Long GV, Lawrence D, Ott PA, Amaravadi RK, Lewis KD, Puzanov I, Lo RS, Koehler A, Kockx M, Spleiss O, Schell-Steven A, et al.

J Clin Oncol. 2013 May 10;31(14):1767-74. doi: 10.1200/JCO.2012.44.7888. Epub 2013 Apr 8.

PubMed [citation]
PMID:
23569304

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. Erratum in: Proc Natl Acad Sci U S A. 2024 May 21;121(21):e2406121121. doi: 10.1073/pnas.2406121121.

PubMed [citation]
PMID:
19915144
PMCID:
PMC2777185

Details of each submission

From Database of Curated Mutations (DoCM), SCV000504533.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 10, 2024