ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.790dup (p.Gln264fs)

dbSNP: rs1114167814
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
Ambry Genetics RCV000491259 SCV000580431 pathogenic Hereditary cancer-predisposing syndrome 2020-11-14 criteria provided, single submitter clinical testing The c.790dupC pathogenic mutation, located in coding exon 4 of the MSH2 gene, results from a duplication of C at nucleotide position 790, causing a translational frameshift with a predicted alternate stop codon (p.Q264Pfs*20). This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Labcorp Genetics (formerly Invitae), Labcorp RCV003593971 SCV004292541 pathogenic Hereditary nonpolyposis colorectal neoplasms 2023-12-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln264Profs*20) in the MSH2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MSH2 are known to be pathogenic (PMID: 15849733, 24362816). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with MSH2-related conditions. ClinVar contains an entry for this variant (Variation ID: 428460). 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.