ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.34dup (p.Glu12fs) (rs63750614)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000076570 SCV000107601 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation resulting in a stop codon
Ambry Genetics RCV000221149 SCV000276142 pathogenic Hereditary cancer-predisposing syndrome 2019-02-07 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense);Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation
Invitae RCV000554624 SCV000625418 pathogenic Hereditary nonpolyposis colon cancer 2019-11-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu12Glyfs*70) in the MSH2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in multiple families affected with colorectal cancer (PMID: 14504054, 28514183), and in an individual affected with Muir-Torre syndrome (PMID: 21550136). This variant is also known as 34_35insG in the literature. ClinVar contains an entry for this variant (Variation ID: 91068). Loss-of-function variants in MSH2 are known to be pathogenic (PMID: 15849733, 24362816). For these reasons, this variant has been classified as Pathogenic.
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000202253 SCV000257186 pathogenic not provided no assertion criteria provided research

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.