Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000562369 | SCV000676173 | pathogenic | Hereditary cancer-predisposing syndrome | 2016-04-13 | criteria provided, single submitter | clinical testing | The c.119_122dupAGGA pathogenic mutation, located in coding exon 2 of the PMS2 gene, results from a duplication of 4 nucleotides at nucleotide position 119, 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). |