ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.528_529delTG (rs587779164)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000076630 SCV000107665 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation resulting in a stop codon
Ambry Genetics RCV000220739 SCV000278274 pathogenic Hereditary cancer-predisposing syndrome 2018-02-22 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Integrated Genetics/Laboratory Corporation of America RCV000076630 SCV000696274 pathogenic Lynch syndrome 2016-03-25 criteria provided, single submitter clinical testing Variant summary: The MSH2 c.528_529delTG (p.Cys176Terfs) variant results in premature termination at codon 176, predicted to cause a truncated or absent MSH2 protein due to nonsense mediated decay, which is a commonly known mechanism for Lynch syndrome. Truncations downstream of this position have been classified as pathogenic by our laboratory (e.g. p.Gln344X, p.Arg383X, p.Glu569fs). Mutation Taster predicts a damaging outcome for this variant. This variant was not found in 121412 control chromosomes, but has been cited in at least 3 patients from the literature. In addition, several clinical laboratories/reputable databases classified this variant as likely pathogenic/pathogenic. Taken together, this variant was classified as pathogenic.
Color RCV000220739 SCV000905220 pathogenic Hereditary cancer-predisposing syndrome 2018-03-21 criteria provided, single submitter clinical testing
A.C.Camargo Cancer Center / LGBM, A.C.Camargo Cancer Center RCV000076630 SCV000914298 pathogenic Lynch syndrome 2019-01-30 criteria provided, single submitter research
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000202171 SCV000257191 likely pathogenic not provided no assertion criteria provided clinical testing

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.