ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.942+4A>T

gnomAD frequency: 0.02181  dbSNP: rs749778569
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000582182 SCV000690147 likely benign Hereditary cancer-predisposing syndrome 2016-09-08 criteria provided, single submitter clinical testing
Invitae RCV001323272 SCV001514180 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2021-03-06 criteria provided, single submitter clinical testing Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with MSH2-related conditions. ClinVar contains an entry for this variant (Variation ID: 491850). This variant is not present in population databases (ExAC no frequency). This sequence change falls in intron 5 of the MSH2 gene. It does not directly change the encoded amino acid sequence of the MSH2 protein, but it affects a nucleotide within the consensus splice site of the intron. 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.
GeneDx RCV001731797 SCV001982940 likely benign not provided 2021-04-10 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004002338 SCV004827053 likely benign Lynch syndrome 2023-12-13 criteria provided, single submitter clinical testing

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