ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.2759A>G (p.Asn920Ser)

dbSNP: rs1667583292
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001205831 SCV001377108 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2022-06-13 criteria provided, single submitter clinical testing 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. Advanced modeling of experimental studies (such as gene expression, population dynamics, functional pathways, and cell-cycle effects in cell culture) performed at Invitae indicates that this missense variant is not expected to disrupt MSH2 protein function. ClinVar contains an entry for this variant (Variation ID: 936921). This variant has not been reported in the literature in individuals affected with MSH2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 920 of the MSH2 protein (p.Asn920Ser).
Ambry Genetics RCV002436791 SCV002752166 uncertain significance Hereditary cancer-predisposing syndrome 2021-02-03 criteria provided, single submitter clinical testing The p.N920S variant (also known as c.2759A>G), located in coding exon 16 of the MSH2 gene, results from an A to G substitution at nucleotide position 2759. The asparagine at codon 920 is replaced by serine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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