Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000254823 | SCV000322529 | likely pathogenic | not provided | 2015-12-30 | criteria provided, single submitter | clinical testing | This deletion of 8 nucleotides in PMS2 is denoted c.139_146delCTGGATGC at the cDNA level and p.Leu47TrpfsX4 (L47WfsX4) at the protein level. The normal sequence, with the bases that are deleted in braces, is CAGT[CTGGATGC]TGGT. The deletion causes a frameshift, which changes a Leucine to a Tryptophan at codon 47, and creates a premature stop codon at position 4 of the new reading frame. Although this variant has not, to our knowledge, been reported in the literature, it is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. Based on the currently available information, we consider this deletion to be a likely pathogenic variant. |
Ambry Genetics | RCV000575861 | SCV000663554 | pathogenic | Hereditary cancer-predisposing syndrome | 2017-02-14 | criteria provided, single submitter | clinical testing | The c.139_146delCTGGATGC pathogenic mutation, located in coding exon 2 of the PMS2 gene, results from a deletion of 8 nucleotides at nucleotide positions 139 to 146, causing a translational frameshift with a predicted alternate stop codon (p.L47Wfs*4). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. |
Myriad Genetics, |
RCV003454781 | SCV004188694 | pathogenic | Lynch syndrome 4 | 2023-09-18 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |