ClinVar

Description

The MSH2 p.Arg21= variant was not identified in the literature nor was it identified in the dbSNP, GeneInsight-COGR, MutDB, UMD-LSDB, Insight Colon Cancer Gene Variant, Zhejiang Colon Cancer Database, Mismatch Repair Genes Variant Database, and Insight Hereditary Tumors Databases. The variant was identified in the ClinVar and Clinvitae databases as likely benign by Invitae). The variant was not identified in the following control databases: the 1000 Genomes Project, the NHLBI GO Exome Sequencing Project, and the Exome Aggregation Consortium (August 8th 2016), or the Genome Aggregation Database (Feb 27, 2017). The c.63C>T variant is not expected to have clinical significance because it does not result in a change of amino acid and is not located in a known consensus splice site, however, 1 of 5 in silico or computational prediction software programs (MaxEntScan) predict a greater than 10% difference in splicing; this is not very predictive of pathogenicity. 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.