ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.1276+11A>G

gnomAD frequency: 0.00009  dbSNP: rs189015988
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000160644 SCV000211246 benign not specified 2014-09-09 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.
Counsyl RCV000410246 SCV000487832 uncertain significance Lynch syndrome 1 2015-12-01 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000580774 SCV000684920 likely benign Hereditary cancer-predisposing syndrome 2015-10-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002053928 SCV002432368 likely benign Hereditary nonpolyposis colorectal neoplasms 2025-02-02 criteria provided, single submitter clinical testing
Genetics and Molecular Pathology, SA Pathology RCV000410246 SCV002556986 uncertain significance Lynch syndrome 1 2020-11-04 criteria provided, single submitter clinical testing The MSH2 c.1276+11A>G variant is classified as VUS (BP4)
Ambry Genetics RCV000580774 SCV002684575 likely benign Hereditary cancer-predisposing syndrome 2015-05-28 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.
Department of Pathology and Laboratory Medicine, Sinai Health System RCV005359373 SCV005921042 likely benign Familial cancer of breast 2024-01-30 criteria provided, single submitter clinical testing

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