ClinVar Miner

Submissions for variant NM_000077.5(CDKN2A):c.41_43delinsCCGTGGCTGGCCACGGCCAC (p.Asp14fs)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004520409 SCV005032140 pathogenic Hereditary cancer-predisposing syndrome 2023-12-08 criteria provided, single submitter clinical testing The c.41_43delACTins20 variant, located in coding exon 1 of the CDKN2A gene, results from the deletion of 3 nucleotides and insertion of 20 nucleotides causing a translational frameshift with a predicted alternate stop codon (p.D14Afs*18). 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.
GeneDx RCV004588549 SCV005079378 likely pathogenic not provided 2023-09-18 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Observed in an individual with a personal and family history of melanoma (Nikolaou et al., 2011); This variant is associated with the following publications: (PMID: 21801156)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.