ClinVar Miner

Submissions for variant NM_000077.5(CDKN2A):c.274G>C (p.Asp92His)

dbSNP: rs1819704439
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002848325 SCV003230919 uncertain significance Familial melanoma 2022-09-13 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with CDKN2A (p16INK4a)-related conditions. This variant is also known as c.317G>C (p.Gly106Ala) in the CDKN2A (p14ARF) transcript. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant is not present in population databases (gnomAD no frequency). The CDKN2A gene encodes two different proteins, p16INK4a and p14ARF, which are translated from alternative transcripts with different open reading frames. Both transcripts have been analyzed. We report either the variant with the higher classification or default to the CDKN2A (p16INK4a) variant. This report therefore includes the details for the CDKN2A (p16INK4a) variant. This sequence change replaces aspartic acid, which is acidic and polar, with histidine, which is basic and polar, at codon 92 of the CDKN2A (p16INK4a) protein (p.Asp92His).

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