ClinVar Miner

Submissions for variant NM_000077.5(CDKN2A):c.97dup (p.Glu33fs)

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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 RCV002387233 SCV002693508 pathogenic Hereditary cancer-predisposing syndrome 2020-10-19 criteria provided, single submitter clinical testing The c.97dupG pathogenic mutation, located in coding exon 1 of the CDKN2A gene, results from a duplication of G at nucleotide position 97, causing a translational frameshift with a predicted alternate stop codon (p.E33Gfs*11). This variant was not reported in population-based 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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