Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001018795 | SCV001180072 | pathogenic | Hereditary cancer-predisposing syndrome | 2018-10-11 | criteria provided, single submitter | clinical testing | The c.9079_9080delAG pathogenic mutation, located in coding exon 62 of the ATM gene, results from a deletion of two nucleotides at nucleotide positions 9079 to 9080, causing a translational frameshift with a predicted alternate stop codon (p.S3027Cfs*35). This frameshift occurs near the 3' terminus of ATM and results in the elongation of the protein by 5 amino acids. This mutation alters the sequence of the FATC domain of the ATM protein which has been shown to be necessary for ATM regulation (Jiang XJ et al. Biol. Chem. 2006 Jun;281(23):15741-6). As such, this alteration is interpreted as a disease-causing mutation. |