ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.2580G>A (p.Ser860=)

gnomAD frequency: 0.00004  dbSNP: rs752428475
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000217383 SCV000276304 likely benign Hereditary cancer-predisposing syndrome 2015-10-16 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 RCV000229354 SCV000284155 likely benign Hereditary nonpolyposis colorectal neoplasms 2024-01-15 criteria provided, single submitter clinical testing
GeneDx RCV001722191 SCV000515874 likely benign not provided 2020-06-01 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 25344691)
Color Diagnostics, LLC DBA Color Health RCV000217383 SCV000685060 likely benign Hereditary cancer-predisposing syndrome 2017-05-09 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001142095 SCV001302501 uncertain significance Lynch syndrome 1 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Sema4, Sema4 RCV000217383 SCV002534491 likely benign Hereditary cancer-predisposing syndrome 2020-12-11 criteria provided, single submitter curation
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV001142095 SCV004015966 likely benign Lynch syndrome 1 2023-07-07 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003330590 SCV004037863 likely benign not specified 2023-08-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004532792 SCV004737678 likely benign MSH2-related disorder 2019-03-08 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 RCV003997953 SCV004826498 likely benign Lynch syndrome 2023-11-20 criteria provided, single submitter clinical testing

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