ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.2140C>T (p.Gln714Ter) (rs1057524433)

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
GeneDx RCV000428147 SCV000535548 pathogenic not provided 2016-12-28 criteria provided, single submitter clinical testing The Q714X variant in the PMS2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Q714X variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret Q714X as a pathogenic variant.
Invitae RCV000535164 SCV000625583 pathogenic Hereditary nonpolyposis colon cancer 2017-03-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 714 (p.Gln714*) of the PMS2 gene. It is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in PMS2 are known to be pathogenic (PMID: 21376568, 24362816). For these reasons, this variant has been classified as Pathogenic.

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.