ClinVar Miner

Submissions for variant NM_000077.5(CDKN2A):c.135dup (p.Arg46fs)

dbSNP: rs2489290573
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003186854 SCV003860809 pathogenic Hereditary cancer-predisposing syndrome 2023-02-24 criteria provided, single submitter clinical testing The c.135dupT pathogenic mutation, located in coding exon 1 of the CDKN2A gene, results from a duplication of T at nucleotide position 135, causing a translational frameshift with a predicted alternate stop codon (p.R46Sfs*74). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Labcorp Genetics (formerly Invitae), Labcorp RCV005101031 SCV005843784 pathogenic Familial melanoma 2024-12-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg46Serfs*74) 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 not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CDKN2A (p16INK4a)-related conditions. ClinVar contains an entry for this variant (Variation ID: 2449063). For these reasons, this variant has been classified as Pathogenic.

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