ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.-8G>A

gnomAD frequency: 0.00001  dbSNP: rs1064795641
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000581194 SCV000689943 likely benign Hereditary cancer-predisposing syndrome 2015-07-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001860085 SCV002274366 likely benign Hereditary nonpolyposis colorectal neoplasms 2024-07-30 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003150287 SCV003837610 uncertain significance Breast and/or ovarian cancer 2021-06-25 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004002326 SCV004827443 likely benign Lynch syndrome 2023-09-17 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001358264 SCV001553948 uncertain significance not provided no assertion criteria provided clinical testing The MSH2 c.-8G>A variant was not identified in the literature nor was it identified in the dbSNP, ClinVar, Clinvitae, GeneInsight – COGR, COSMIC, UMD-LSDB, Insight Colon Cancer Gene Variant Database, Zhejiang Colon Cancer Database, Mismatch Repair Genes Variant Database, Insight Hereditary Tumors Database, the 1000 Genomes Project, the NHLBI GO Exome Sequencing Project or the Exome Aggregation Consortium (August 8th 2016) control databases. While the c.-8G>A variant is located upstream of the translation initiation site, in the 5’ untranslated region, there is currently no evidence to suggest whether this substitution is clinically significant. In summary, based on the above information the clinical significance of this variant cannot be determined with certainty at this time. This variant is classified as a variant of uncertain significance.

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