ClinVar Miner

Submissions for variant NM_000077.5(CDKN2A):c.34del (p.Ser12fs)

dbSNP: rs2131113797
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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 RCV001380650 SCV001578778 pathogenic Familial melanoma 2020-10-21 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in CDKN2A (p16INK4a) are known to be pathogenic (PMID: 15146471, 16905682). This variant has not been reported in the literature in individuals with CDKN2A (p16INK4a)-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ser12Argfs*14) in the CDKN2A (p16INK4a) gene. It is expected to result in an absent or disrupted protein product.

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