ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.-44G>A (rs1064793507)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000484007 SCV000566287 uncertain significance not provided 2016-08-01 criteria provided, single submitter clinical testing This variant is denoted MSH2 c.-44G>A, and describes a nucleotide substitution 44 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 GTGT[G/A]GGGT. This variant 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 6,400 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, suggesting it is not a common benign variant in these populations. MSH2 c.-44G>A alters a base that is not conserved across species. Based on currently available information, it is unclear whether MSH2 c.-44G>A is pathogenic or benign. We consider it to be a variant of uncertain significance.

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