ClinVar Miner

Submissions for variant NM_000077.5(CDKN2A):c.47_51dup (p.Thr18fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004520411 SCV005032108 pathogenic Hereditary cancer-predisposing syndrome 2024-02-27 criteria provided, single submitter clinical testing The c.47_51dupTGGCC pathogenic mutation, located in coding exon 1 of the CDKN2A gene, results from a duplication of TGGCC at nucleotide position 47, causing a translational frameshift with a predicted alternate stop codon (p.T18Wfs*10). 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.

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