ClinVar Miner

Submissions for variant NM_000077.5(CDKN2A):c.228del (p.Thr77fs)

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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 RCV002446216 SCV002732355 pathogenic Hereditary cancer-predisposing syndrome 2021-07-08 criteria provided, single submitter clinical testing The c.228delC pathogenic mutation, located in coding exon 2 of the CDKN2A gene, results from a deletion of one nucleotide at nucleotide position 228, causing a translational frameshift with a predicted alternate stop codon (p.T77Lfs*69). This alteration occurs at the 3' terminus of theCDKN2A gene, is not expected to trigger nonsense-mediated mRNA decay, and impacts the last 80 amino acids of the protein. However, premature stop codons are typically deleterious in nature and the impacted region is critical for protein function (Ambry internal data). Based on the supporting evidence, this alteration is interpreted as a disease-causing mutation.

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