ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.1305C>T (p.His435=)

gnomAD frequency: 0.00001  dbSNP: rs763954903
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000215594 SCV000276807 likely benign Hereditary cancer-predisposing syndrome 2015-06-30 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV001087079 SCV000285062 likely benign Hereditary nonpolyposis colorectal neoplasms 2023-12-27 criteria provided, single submitter clinical testing
GeneDx RCV000422386 SCV000527166 likely benign not specified 2017-01-03 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.
Color Diagnostics, LLC DBA Color Health RCV000215594 SCV000691006 likely benign Hereditary cancer-predisposing syndrome 2017-06-19 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759195 SCV000888388 likely benign not provided 2017-10-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000759195 SCV004163708 likely benign not provided 2022-07-01 criteria provided, single submitter clinical testing PMS2: BP4, BP7
All of Us Research Program, National Institutes of Health RCV003997989 SCV004844243 likely benign Lynch syndrome 2023-08-15 criteria provided, single submitter clinical testing

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