Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000657839 | SCV000779595 | pathogenic | not provided | 2018-04-06 | criteria provided, single submitter | clinical testing | This variant is denoted APC c.2507_2511delCATCAinsG at the cDNA level and p.Ser836Ter (S836X) at the protein level. The normal sequence, with the bases that are deleted and inserted in brackets, is TCTT[delCATCA][insG]AGAG. This combined deletion and insertion creates a nonsense variant, which changes a Serine to a premature stop codon (TCA>TGA). This variant is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. Although APC c.2507_2511delCATCAinsG has not, to our knowledge, been reported in the literature, a nucleotide substitution resulting in the same protein change (c.2507C>G, p.Ser836Ter) has been reported in individuals with Familial Adenomatous Polyposis (Obul 2012). We consider APC c.2507_2511delCATCAinsG to be pathogenic. |