ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.1768del (p.Ile590fs)

dbSNP: rs63750477
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
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000076826 SCV000108313 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation resulting in a stop codon
Invitae RCV002514361 SCV003439935 pathogenic Hereditary nonpolyposis colorectal neoplasms 2022-06-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile590Phefs*5) 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). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 91314). This premature translational stop signal has been observed in individual(s) with constitutional mismatch repair deficiency syndrome (PMID: 17851451). This variant is not present in population databases (gnomAD no frequency).

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.