ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.1500C>T (p.Ser500=)

gnomAD frequency: 0.00006  dbSNP: rs116094787
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000167279 SCV000218122 likely benign Hereditary cancer-predisposing syndrome 2014-12-19 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 RCV000205183 SCV000260522 likely benign Hereditary nonpolyposis colorectal neoplasms 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000425284 SCV000518356 likely benign not specified 2018-01-30 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 RCV000167279 SCV000686131 likely benign Hereditary cancer-predisposing syndrome 2015-12-28 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000167279 SCV002530196 likely benign Hereditary cancer-predisposing syndrome 2022-01-02 criteria provided, single submitter curation
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000425284 SCV002572390 likely benign not specified 2022-08-28 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003150030 SCV003838387 likely benign Breast and/or ovarian cancer 2022-05-31 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003995578 SCV004844198 likely benign Lynch syndrome 2024-01-11 criteria provided, single submitter clinical testing

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