ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.1874_1877delinsAGG (p.Leu625_Ala626delinsTer) (rs1554297153)

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
GeneDx RCV000657823 SCV000779578 pathogenic not provided 2017-06-14 criteria provided, single submitter clinical testing This variant is denoted PMS2 c.1874_1877delTAGCinsAGG at the cDNA level and p.Leu625Ter (L625X) at the protein level. The normal sequence, with the bases that are deleted and inserted in brackets, is TCTT[delTAGC][insAGG]TAAA. The combined deletion and insertion creates a nonsense variant, which changes a Leucine to a premature stop codon. This variant is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. While PMS2 c.1874_1877delTAGCinsAGG has not, to our knowledge, been reported in the literature, another variant resulting in the same protein effect PMS2 c.1874delT (L625X) has been reported in individuals with colon cancer (Goodenberger 2015, Rosty 2016, Pearlman 2017) . PMS2 c.1874_1877delTAGCinsAGG is considered 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.