ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.2158A>G (p.Lys720Glu)

gnomAD frequency: 0.00002  dbSNP: rs747265823
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000214268 SCV000276867 likely benign Hereditary cancer-predisposing syndrome 2023-08-10 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp RCV000524727 SCV000625356 likely benign Hereditary nonpolyposis colorectal neoplasms 2024-09-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004532799 SCV004119706 uncertain significance MSH2-related disorder 2022-11-19 criteria provided, single submitter clinical testing The MSH2 c.2158A>G variant is predicted to result in the amino acid substitution p.Lys720Glu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.012% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-47703658-A-G) and is interpreted as uncertain significance in ClinVar (https://preview.ncbi.nlm.nih.gov/clinvar/variation/232677/). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Baylor Genetics RCV004567613 SCV005053551 uncertain significance Lynch syndrome 1 2023-11-03 criteria provided, single submitter clinical testing
GeneDx RCV004777630 SCV005389575 uncertain significance not provided 2024-03-27 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Published functional studies suggest a neutral effect (PMID: 33357406); This variant is associated with the following publications: (PMID: 18822302, 21120944, 33357406)

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