ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.2804G>A (p.Ter935=)

gnomAD frequency: 0.00001  dbSNP: rs876658335
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000220489 SCV000273425 likely benign Hereditary cancer-predisposing syndrome 2015-01-16 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.
Invitae RCV001085086 SCV000284164 likely benign Hereditary nonpolyposis colorectal neoplasms 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000231846 SCV000513667 likely benign not provided 2021-05-18 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000220489 SCV000690100 likely benign Hereditary cancer-predisposing syndrome 2017-06-19 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000231846 SCV001134359 likely benign not provided 2022-10-24 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316198 SCV004015957 likely benign Lynch syndrome 1 2023-07-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004532775 SCV004746795 likely benign MSH2-related disorder 2019-09-18 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
All of Us Research Program, National Institutes of Health RCV003997794 SCV004832143 likely benign Lynch syndrome 2024-01-11 criteria provided, single submitter clinical testing

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