ClinVar Miner

Submissions for variant NM_000077.5(CDKN2A):c.19_22dup (p.Ser8fs)

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 RCV002408254 SCV002721973 pathogenic Hereditary cancer-predisposing syndrome 2020-07-10 criteria provided, single submitter clinical testing The c.19_22dupAGCA variant, located in coding exon 1 of the CDKN2A gene, results from a duplication of AGCA at nucleotide position 19, causing a translational frameshift with a predicted alternate stop codon (p.S8Kfs*8). 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003746642 SCV004458325 pathogenic Familial melanoma 2023-04-19 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1782299). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with CDKN2A (p16INK4a)-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser8Lysfs*8) in the CDKN2A (p16INK4a) gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CDKN2A (p16INK4a) are known to be pathogenic (PMID: 15146471, 16905682).

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.