Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000487284 | SCV000565930 | pathogenic | not provided | 2015-04-13 | criteria provided, single submitter | clinical testing | This deletion of one nucleotide in PMS2 is denoted c.510delT at the cDNA level and p.His170GlnfsX31 (H170QfsX31) at the protein level. The normal sequence, with the base that is deleted in brackets, is GCCA[T]AAGG. The deletion causes a frameshift, which changes a Histidine to a Glutamine at codon 170, and creates a premature stop codon at position 31 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. we consider this variant to be pathogenic. |
Ambry Genetics | RCV002350052 | SCV002645836 | pathogenic | Hereditary cancer-predisposing syndrome | 2016-01-25 | criteria provided, single submitter | clinical testing | The c.510delT pathogenic mutation, located in coding exon 5 of the PMS2 gene, results from a deletion of one nucleotide at nucleotide position 510, causing a translational frameshift with a predicted alternate stop codon. Since frameshifts are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294). |