ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.(792+1_793-1)_(1076+1_1077-1)del (p.Val265Ilefs*29)

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) RCV000076717 SCV000107748 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Large deletion
Invitae RCV000076717 SCV000253808 pathogenic Lynch syndrome 2015-01-15 criteria provided, single submitter clinical testing This sequence change is a gross deletion of the genomic region encompassing exons 5-6 of the MSH2 gene. This deletion is expected to cause a frameshift at codon 265, creating a premature translational stop signal (p.Val265Ilefs*29) that is expected to result in an absent or disrupted protein product. This deletion extends to both edges of the assayed region, and the 5' and 3' boundaries of this event are not known. Deletions of exons 5-6 have been reported in the literature in individuals affected with Lynch syndrome (PMID: 19690142, 20591884, 11830542, 17453009). 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.