ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.-2A>C (rs906564011)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000486780 SCV000569388 uncertain significance not provided 2016-09-02 criteria provided, single submitter clinical testing This variant is denoted MSH2 c.-2A>C, and describes a nucleotide substitution 2 base pairs upstream of the MSH2 ATG translational start site in the 5' untranslated region (UTR). The surrounding sequence, with the base that is substituted in braces, is TTCG[A/C]CATG. MSH2 c.-2A>C has not, to our knowledge, been published in the literature as pathogenic or benign. This variant does not appear to affect the start codon or the Kozak translational consensus sequence. This variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, suggesting it is not a common benign variant in these populations. The nucleotide that is altered, an adenine (A), is conserved through mammals. At this time, we consider MSH2 c.-2A>C to be a variant of uncertain significance.
Ambry Genetics RCV000569764 SCV000673880 uncertain significance Hereditary cancer-predisposing syndrome 2019-02-28 criteria provided, single submitter clinical testing Insufficient evidence

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