ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.2277A>G (p.Gly759=)

gnomAD frequency: 0.00002  dbSNP: rs1057520316
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000427595 SCV000513664 likely benign not specified 2016-02-16 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 RCV000467973 SCV000559197 likely benign Hereditary nonpolyposis colorectal neoplasms 2023-12-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV000570352 SCV000669773 likely benign Hereditary cancer-predisposing syndrome 2017-04-27 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000427595 SCV001362021 likely benign not specified 2020-01-31 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003995967 SCV004825340 uncertain significance Lynch syndrome 2023-05-04 criteria provided, single submitter clinical testing This variant is located in the MSH2 protein. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with MSH2-related disorders in the literature. This variant has been identified in 3/282854 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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