ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.943-5A>G

dbSNP: rs1057521671
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
Invitae RCV000920201 SCV001065561 likely benign Hereditary nonpolyposis colorectal neoplasms 2023-08-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002445021 SCV002682948 uncertain significance Hereditary cancer-predisposing syndrome 2020-11-02 criteria provided, single submitter clinical testing The c.943-5A>G intronic variant results from an A to G substitution 5 nucleotides upstream from coding exon 6 in the MSH2 gene. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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.