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CDKN2A V126D
GeneCDKN2A
Variantmissense
Amino Acid ChangeV126D
DNA Change (Coding Nucleotide)377T>A
Transcript ID (GRCh37/hg19)ENST00000498124
Codon126
Exon2
Genomic Coordinates (GRCh37/hg19)9:21970981-21970981
Germline/Somatic?Somatic
Pertinent Negative In
Tumor TypePrimary Site
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Tier 2
CDKN2A
Variants
CDKN2A V126D
Primary Sites
Skin
Tumor Types
Melanoma
Interpretation

CDKN2A gene functions as an important tumor suppressor via induction of cell growth arrest and senescence. Majority of the CDKN2A mutations result in loss or decreased binding to CDK4/6 leading to uncontrolled cell growth through inactivation of Rb and p53 pathways. CDKN2A is a major high-risk susceptibility gene identified in melanoma. Somatic mutations of CDKN2A are reported in up to 19% and 20% of cutaneous and desmoplastic melanomas, respectively. Germline mutations have been reported in ~20-40% of families with melanoma. CDKN2A V126D mutation has been reported in numerous cases of familial melanoma and shown to be a loss-of-function mutation with reduced CDK4 binding. Correlation with other clinical and lab findings is necessary.

Last updated: 2017-04-10 19:10:58 UTC
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Disclaimer: You assume full responsibility for all risks associated with using this PMKB website. The Englander Institute for Precision Medicine at Weill Cornell Medicine makes no guarantee of the comprehensiveness, reliability or accuracy of the information on this website and assumes no responsibility for errors in the information associated with this web site. Healthcare providers and patients must integrate all clinical and laboratory findings as well as information from a variety of sources before deciding on appropriate clinical care options.


When using PMKB, please cite: Huang et al., JAMIA 2017


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