ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.4001+11_4001+19del

dbSNP: rs2104569281
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001358267 SCV001553952 likely benign Carcinoma of colon no assertion criteria provided clinical testing The MSH6 c.4001+11_4001+19del variant was not identified in the literature, nor was it identified in dbSNP, the 1000 Genomes Project, the NHLBI Exome Sequencing Project, the Exome Aggregation Consortium, the genome Aggregation Database (beta), GeneInsight COGR, ClinVar, Clinvitae, COSMIC, MutDB, UMD, InSiGHT Colon Cancer Gene Variant Database (LOVD), the Zhejiang Colon Cancer Database (LOVD), the “Mismatch Repair Genes Variant Database” or the “MMR Gene Unclassified Variants Database”. The variant occurs outside of the splicing consensus sequence and in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer, HumanSpliceFinder) do not predict a difference in splicing. This variant was identified by our lab in an individual with a co-occurring pathogenic variant (in the MSH6 gene) who had colon cancer and a family history of Lynch syndrome related cancers, increasing the likelihood it does not have clinical significance. In summary, based on the above information, the clinical significance of this variant cannot be determined with certainty at this time although we would lean towards a more benign role for this variant. This variant is classified as likely benign.

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