Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001043249 | SCV001206973 | uncertain significance | Familial cancer of breast; Fanconi anemia complementation group J | 2023-04-04 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. ClinVar contains an entry for this variant (Variation ID: 841100). This variant has not been reported in the literature in individuals affected with BRIP1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change results in a frameshift in the BRIP1 gene (p.Phe1248Leufs*6). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 2 amino acid(s) of the BRIP1 protein and extend the protein by 3 additional amino acid residues. |
| Ambry Genetics | RCV002348361 | SCV002622675 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-08-25 | criteria provided, single submitter | clinical testing | The c.3744delT variant, located in coding exon 19 of the BRIP1 gene, results from a deletion of one nucleotide at nucleotide position 3744, causing a translational frameshift with a predicted alternate stop codon (p.F1248Lfs*6). This alteration occurs at the 3' terminus of the BRIP1 gene, is not expected to trigger nonsense-mediated mRNAdecay and results in the elongation of the protein by three amino acids. This frameshift impacts the last twoamino acids of the native protein. The exact functional effect of the altered amino acids is unknown. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |