Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000574351 | SCV000661560 | pathogenic | Hereditary cancer-predisposing syndrome | 2016-09-29 | criteria provided, single submitter | clinical testing | The c.2015delTinsCC pathogenic mutation, located in coding exon 13 of the BRIP1 gene, results from the deletion of one nucleotide and insertion of two nucleotides 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, |
RCV003335484 | SCV004043766 | pathogenic | Familial cancer of breast | 2023-06-05 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |