ClinVar Miner

Submissions for variant NM_000077.5(CDKN2A):c.45G>A (p.Trp15Ter)

dbSNP: rs138677674
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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 RCV001055189 SCV001219565 pathogenic Familial melanoma 2022-01-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp15*) in the CDKN2A (p16INK4a) gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CDKN2A (p16INK4a) are known to be pathogenic (PMID: 15146471, 16905682). This variant is present in population databases (rs138677674, gnomAD 0.001%). This premature translational stop signal has been observed in individual(s) with melanoma and pancreatic adenocarcinoma (PMID: 10398427, 18983535, 28830827, 29961768). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 850910). For these reasons, this variant has been classified as Pathogenic.

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