ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.2211-7G>A

gnomAD frequency: 0.00001  dbSNP: rs764972956
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001193291 SCV001362027 uncertain significance not specified 2019-08-19 criteria provided, single submitter clinical testing Variant summary: MSH2 c.2211-7G>A alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 5/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant was absent in 251176 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.2211-7G>A in individuals affected with Hereditary Non-Polyposis Colon Cancer and no experimental evidence demonstrating its impact on protein function have been reported. A ClinVar submission (evaluation after 2014) classified the variant as likely benign. Based on the evidence outlined above, the variant was classified as uncertain significance.
Invitae RCV001393988 SCV001595667 likely benign Hereditary nonpolyposis colorectal neoplasms 2022-08-23 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV001193291 SCV002552259 likely benign not specified 2023-08-15 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV003584645 SCV004356729 likely benign Hereditary cancer-predisposing syndrome 2022-07-12 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004003743 SCV004827428 likely benign Lynch syndrome 2023-05-16 criteria provided, single submitter clinical testing

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