Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Department of Pathology and Laboratory Medicine, |
RCV001357288 | SCV001552713 | likely pathogenic | Lynch syndrome | no assertion criteria provided | clinical testing | The PMS2 p.Gln288Thrfs*11 variant was not identified in the literature nor was it identified in the dbSNP, ClinVar, Exome Aggregation Consortium (August 8th 2016) and Genome Aggregation Database (Feb 27, 2017). The c.860dupG variant is predicted to cause a frameshift, which alters the protein's amino acid sequence beginning at codon 288 and leads to a premature stop codon at position 298. This alteration is then predicted to result in a truncated or absent protein and loss of function. Loss of function variants of the PMS2 gene are an established mechanism of disease in Lynch Syndrome and is the type of variant expected to cause the disorder. 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 pathogenic role for this variant. This variant is classified as likely pathogenic. |