ClinVar Miner

Submissions for variant NM_000077.5(CDKN2A):c.52A>C (p.Thr18Pro)

dbSNP: rs758455611
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000216246 SCV000276899 uncertain significance Hereditary cancer-predisposing syndrome 2022-08-03 criteria provided, single submitter clinical testing The p.T18P variant (also known as c.52A>C), located in coding exon 1 of the CDKN2A gene, results from an A to C substitution at nucleotide position 52. The threonine at codon 18 is replaced by proline, an amino acid with highly similar properties. This alteration has been reported in at least one individual with suspected familial pancreatic cancer and was classified as a variant of unknown significance by authors (Zhen DB et al, Genet. Med. 2015 Jul; 17(7):569-77; Chaffee KG. et al, Genet Med. 2018 01;20(1):119-127). One functional study reported this variant as deleterious based on in vitro assessment of impact on proliferation in human pancreatic cancer cell lines. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by BayesDel in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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.