Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000534157 | SCV000633508 | pathogenic | Familial cancer of breast; Fanconi anemia complementation group J | 2023-09-30 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln740Argfs*19) in the BRIP1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRIP1 are known to be pathogenic (PMID: 16116423, 17033622, 21964575). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BRIP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 461041). For these reasons, this variant has been classified as Pathogenic. |
| Ambry Genetics | RCV002431576 | SCV002728800 | pathogenic | Hereditary cancer-predisposing syndrome | 2023-06-07 | criteria provided, single submitter | clinical testing | The c.2218delC pathogenic mutation, located in coding exon 14 of the BRIP1 gene, results from a deletion of one nucleotide at nucleotide position 2218, causing a translational frameshift with a predicted alternate stop codon (p.Q740Rfs*19). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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, |
RCV003335456 | SCV004043615 | pathogenic | Familial cancer of breast | 2023-06-06 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |