ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.1077-?_1276+?dup

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
Invitae RCV000168283 SCV000218956 likely pathogenic Lynch syndrome 2015-05-22 criteria provided, single submitter clinical testing This sequence change is a gross duplication of the genomic region encompassing exon 7 of the MSH2 gene. While the exact position of the duplicated exon cannot be determined from this data, the most likely explanation is that it occurs in tandem and results in an absent or disrupted protein product. A similar duplication of exon 7 in the MSH2 gene has been reported previously in a patient affected with colorectal cancer (PMID: 15713769). If this exon 7 duplication is in tandem, it would likely result in a frameshift leading to a premature translational stop signal and an absent or disrupted MSH2 protein. Given the likelihood that this is an intragenic duplication, it has been classified as Likely 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.