Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002347255 | SCV002651459 | pathogenic | Hereditary cancer-predisposing syndrome | 2016-09-21 | criteria provided, single submitter | clinical testing | The c.53delC pathogenic mutation, located in coding exon 1 of the BRIP1 gene, results from a deletion of one nucleotide at nucleotide position 53, causing a translational frameshift with a predicted alternate stop codon. 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, |
RCV003336553 | SCV004043572 | pathogenic | Familial cancer of breast | 2023-05-30 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |