Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002230427 | SCV000551953 | pathogenic | Hereditary nonpolyposis colorectal neoplasms | 2016-11-30 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. While this particular variant has not been reported in the literature, loss-of-function variants in PMS2 are known to be pathogenic (PMID: 21376568, 24362816). This sequence change inserts 1 nucleotide in exon 8 of the PMS2 mRNA (c.859dupA), causing a frameshift at codon 287. This creates a premature translational stop signal (p.Arg287Lysfs*12) and is expected to result in an absent or disrupted protein product. |
Ambry Genetics | RCV002446830 | SCV002679928 | pathogenic | Hereditary cancer-predisposing syndrome | 2016-10-31 | criteria provided, single submitter | clinical testing | The c.859dupA pathogenic mutation, located in coding exon 8 of the PMS2 gene, results from a duplication of A at nucleotide position 859, causing a translational frameshift with a predicted alternate stop codon (p.R287Kfs*12). 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. |