ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.2500G>A (p.Ala834Thr) (rs63750757)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000076488 SCV000107517 likely benign Lynch syndrome 2013-09-05 reviewed by expert panel research Multifactorial likelihood analysis posterior probability 0.001-0.049
Ambry Genetics RCV000131725 SCV000186765 likely benign Hereditary cancer-predisposing syndrome 2018-11-08 criteria provided, single submitter clinical testing Co-occurence with mutation in same gene (phase unknown);Other data supporting benign classification;Intact protein function observed in appropriate functional assay(s)
GeneDx RCV000212620 SCV000211254 likely benign not specified 2017-10-31 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001084815 SCV000253156 benign Hereditary nonpolyposis colon cancer 2019-12-31 criteria provided, single submitter clinical testing
Color RCV000131725 SCV000537488 likely benign Hereditary cancer-predisposing syndrome 2015-07-28 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000679306 SCV000601467 likely benign not provided 2018-10-16 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000659884 SCV000781776 uncertain significance Lynch syndrome I 2016-11-01 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000679306 SCV000806030 likely benign not provided 2017-10-26 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000659884 SCV001302498 likely benign Lynch syndrome I 2019-07-22 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

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