Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002333816 | SCV002631885 | pathogenic | Hereditary cancer-predisposing syndrome | 2020-12-02 | criteria provided, single submitter | clinical testing | The c.441_445delCAGAGinsA pathogenic mutation, located in coding exon 4 of the BRIP1 gene, results from the deletion of 5 nucleotides and insertion of one nucleotide causing a translational frameshift with a predicted alternate stop codon (p.Y147*). 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, |
RCV003336545 | SCV004045377 | pathogenic | Familial cancer of breast | 2023-05-31 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation. |
Baylor Genetics | RCV003336545 | SCV004217141 | likely pathogenic | Familial cancer of breast | 2023-03-24 | criteria provided, single submitter | clinical testing |