Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000562461 | SCV000675884 | pathogenic | Hereditary cancer-predisposing syndrome | 2021-03-26 | criteria provided, single submitter | clinical testing | The c.5920delG pathogenic mutation, located in coding exon 15 of the APC gene, results from a deletion of one nucleotide at nucleotide position 5920, causing a translational frameshift with a predicted alternate stop codon (p.D1974Tfs*70). This alteration occurs at the 3' terminus of APC gene, is not expected to trigger nonsense-mediated mRNA decay, and impacts the last 870 amino acids of the protein. However, premature stop codons are typically deleterious in nature and the impacted region is critical for protein function (Ambry internal data). This alteration has been detected in a patient with >100 adenomatous colon polyps (Ambry internal data). Based on the supporting evidence, this alteration is interpreted as a disease-causing mutation. |