ClinVar Miner

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

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Total submissions: 7
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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 2019-03-04 criteria provided, single submitter clinical testing 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 2020-01-15 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
Invitae RCV001048009 SCV001211998 pathogenic Hereditary nonpolyposis colorectal neoplasms 2019-01-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys176*) 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 several individuals and families affected with Lynch syndrome or Lynch syndrome-related cancers (PMID: 11208710, 21642682, 26437257, 28874130). ClinVar contains an entry for this variant (Variation ID: 91126). 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 RCV000202171 SCV000257191 likely pathogenic not provided no assertion criteria provided clinical testing

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