Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001022847 | SCV001184629 | pathogenic | Hereditary cancer-predisposing syndrome | 2019-03-28 | criteria provided, single submitter | clinical testing | The c.465_468delTTAC pathogenic mutation, located in coding exon 3 of the CHEK2 gene, results from a deletion of 4 nucleotides at nucleotide positions 465 to 468, causing a translational frameshift with a predicted alternate stop codon (p.Y156Lfs*4). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. |
Baylor Genetics | RCV003467668 | SCV004217596 | likely pathogenic | Familial cancer of breast | 2023-08-18 | criteria provided, single submitter | clinical testing |