ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.-10A>G

gnomAD frequency: 0.00001  dbSNP: rs765201464
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001804483 SCV002052895 likely benign Hereditary cancer-predisposing syndrome 2021-03-14 criteria provided, single submitter clinical testing
Invitae RCV001869513 SCV002190614 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2022-12-06 criteria provided, single submitter clinical testing Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. ClinVar contains an entry for this variant (Variation ID: 1331967). This variant has not been reported in the literature in individuals affected with MSH2-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant occurs in a non-coding region of the MSH2 gene. It does not change the encoded amino acid sequence of the MSH2 protein.
All of Us Research Program, National Institutes of Health RCV004009091 SCV004817304 likely benign Lynch syndrome 2023-03-07 criteria provided, single submitter clinical testing

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