Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001202285 | SCV001373393 | pathogenic | Hereditary nonpolyposis colorectal neoplasms | 2019-06-12 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln237Profs*10) in the PMS2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with PMS2-related conditions. Loss-of-function variants in PMS2 are known to be pathogenic (PMID: 21376568, 24362816). For these reasons, this variant has been classified as Pathogenic. |
Ambry Genetics | RCV002365908 | SCV002663123 | pathogenic | Hereditary cancer-predisposing syndrome | 2017-11-30 | criteria provided, single submitter | clinical testing | The c.710_714delAAAGC pathogenic mutation, located in coding exon 7 of the PMS2 gene, results from a deletion of 5 nucleotides at nucleotide positions 710 to 714, causing a translational frameshift with a predicted alternate stop codon (p.Q237Pfs*10). 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. |