ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.2466T>A (p.Cys822Ter) (rs63749846)

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
Integrated Genetics/Laboratory Corporation of America RCV000587946 SCV000696251 likely pathogenic Lynch syndrome 2016-04-25 criteria provided, single submitter clinical testing Variant summary: The c.2466T>A (p.Cys822*) variant in MSH2 gene is a nonsense change predicted to cause loss of normal protein function through protein truncation or nonsense-mediated mRNA decay. The variant is absent from the large control population dataset of ExAC. The variant of interest has not been reported in affected individuals in the literature or cited by reputable database/diagnostic center. Another variant, c.2466_2467delTG with the same consequence (p.Cys822*) has been reported as a germline change in CRC pt, who fulfilled the Bethesda II criteria; IHC showed selective loss of the MSH2 and MSI-H status in tumor sample. Taken together, the variant was 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.