Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002378474 | SCV002687662 | pathogenic | Hereditary cancer-predisposing syndrome | 2020-01-23 | criteria provided, single submitter | clinical testing | The c.1271delA pathogenic mutation, located in coding exon 11 of the CHEK2 gene, results from a deletion of one nucleotide at nucleotide position 1271, causing a translational frameshift with a predicted alternate stop codon (p.Y424Ffs*13). 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. |
Myriad Genetics, |
RCV003336577 | SCV004045117 | pathogenic | Familial cancer of breast | 2023-06-28 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |