ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.1077-15G>T

gnomAD frequency: 0.00001  dbSNP: rs753277524
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000615942 SCV000728988 likely benign not specified 2017-09-20 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Counsyl RCV000663074 SCV000786147 likely benign Lynch syndrome 1 2018-03-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000679282 SCV000805989 likely benign not provided 2017-06-02 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001805213 SCV002053155 likely benign Hereditary cancer-predisposing syndrome 2021-06-29 criteria provided, single submitter clinical testing
Invitae RCV002064357 SCV002479996 likely benign Hereditary nonpolyposis colorectal neoplasms 2023-08-28 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV000663074 SCV004018226 benign Lynch syndrome 1 2023-03-16 criteria provided, single submitter clinical testing This variant is considered benign. This variant is strongly associated with less severe personal and family histories of cancer, typical for individuals without pathogenic variants in this gene [PMID: 25085752].
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000679282 SCV004563567 likely benign not provided 2023-11-20 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004002604 SCV004830926 likely benign Lynch syndrome 2023-11-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV001805213 SCV004849075 likely benign Hereditary cancer-predisposing syndrome 2014-10-03 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.

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