ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.1532del (p.Thr511fs)

dbSNP: rs1554297636
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 RCV000657310 SCV000779041 pathogenic not provided 2017-04-06 criteria provided, single submitter clinical testing This deletion of one nucleotide in PMS2 is denoted c.1532delC at the cDNA level and p.Thr511ArgfsX84 (T511RfsX84) at the protein level. The normal sequence, with the base that is deleted in brackets, is GACA[delC]GGGC. The deletion causes a frameshift which changes a Threonine to an Arginine at codon 511, and creates a premature stop codon at position 84 of the new reading frame. Although this variant has not, to our knowledge, been reported in the literature, it is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. We consider this variant to be pathogenic.
Invitae RCV000695167 SCV000823649 pathogenic Hereditary nonpolyposis colorectal neoplasms 2021-10-27 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with PMS2-related conditions. For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 545777). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Thr511Argfs*84) in the PMS2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PMS2 are known to be pathogenic (PMID: 21376568, 24362816).

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.