Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000818316 | SCV000958920 | pathogenic | Hereditary nonpolyposis colorectal neoplasms | 2018-11-14 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in PMS2 are known to be pathogenic (PMID: 21376568, 24362816). This variant has not been reported in the literature in individuals with PMS2-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu518Glyfs*77) in the PMS2 gene. It is expected to result in an absent or disrupted protein product. |
Ambry Genetics | RCV002397707 | SCV002707495 | pathogenic | Hereditary cancer-predisposing syndrome | 2018-03-08 | criteria provided, single submitter | clinical testing | The c.1553delA pathogenic mutation, located in coding exon 11 of the PMS2 gene, results from a deletion of one nucleotide at nucleotide position 1553, causing a translational frameshift with a predicted alternate stop codon (p.E518Gfs*77). 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. |