ClinVar Miner

Submissions for variant NM_000077.5(CDKN2A):c.45dup (p.Leu16fs)

dbSNP: rs1131691188
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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 RCV000492886 SCV000581515 pathogenic Hereditary cancer-predisposing syndrome 2016-11-07 criteria provided, single submitter clinical testing The c.45dupG pathogenic mutation, located in coding exon 1 of the CDKN2A gene, results from a duplication of G at nucleotide position 45, causing a translational frameshift with a predicted alternate stop codon. 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.
Color Diagnostics, LLC DBA Color Health RCV000492886 SCV000689609 pathogenic Hereditary cancer-predisposing syndrome 2021-07-01 criteria provided, single submitter clinical testing This variant inserts 1 nucleotide in exon 1 of the CDKN2A (p16INK4A) gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. To our knowledge, this variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of CDKN2A function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.

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