ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.816G>A (p.Ala272=)

gnomAD frequency: 0.00001  dbSNP: rs368912987
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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 RCV000214094 SCV000277322 likely benign Hereditary cancer-predisposing syndrome 2015-07-16 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 RCV000545840 SCV000625468 likely benign Hereditary nonpolyposis colorectal neoplasms 2023-11-29 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000214094 SCV000685131 likely benign Hereditary cancer-predisposing syndrome 2017-01-24 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001139364 SCV001299507 uncertain significance Lynch syndrome 1 2017-04-28 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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
GeneDx RCV001558615 SCV001780605 uncertain significance not provided 2021-06-11 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (Lek 2016); In silico analysis, which includes splice predictors and evolutionary conservation, suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; Observed in individuals with colorectal or pancreatic cancer, but also in unaffected controls (Fujita 2020, Mizukami 2020); This variant is associated with the following publications: (PMID: 33309985, 32980694)
Sema4, Sema4 RCV000214094 SCV002526750 uncertain significance Hereditary cancer-predisposing syndrome 2021-06-07 criteria provided, single submitter curation
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001558615 SCV004221021 likely benign not provided 2023-02-23 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003998022 SCV004831444 likely benign Lynch syndrome 2023-12-13 criteria provided, single submitter clinical testing

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