ClinVar Miner

Submissions for variant NM_000077.5(CDKN2A):c.340_343dup (p.Val115fs)

dbSNP: rs1554653976
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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 RCV000218034 SCV000277887 pathogenic Hereditary cancer-predisposing syndrome 2017-05-01 criteria provided, single submitter clinical testing The c.340_343dupCCCG pathogenic mutation, located in coding exon 2 of the CDKN2A gene, results from a duplication of CCCG at nucleotide position 340, causing a translational frameshift with a predicted alternate stop codon (p.V115Afs*6). 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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