Table 2.
Summary of functional analyses on BRCA1 unclassified variants
| BRCA1 variant | Expression (RNA and protein) | BRCT structure (trypsin sensitivity) | Transcription activation activity | Nuclear foci formation | Centrosome amplification | Conclusion |
| BRCA1 5215 G>A (R1699Q) | Wild-type | Destabilised | Intermediate activity | Defective | Wild-type | Intermediate on 1 and defective on 2 of 5 criteria |
| BRCA1 5242 C>T (A1708V) | Wild-type | Wild-type | Intermediate activity | Normal | Positive | Intermediate on 1 and defective on 1 of 5 criteria |
| BRCA1 5242 C>A (A1708E) | Wild-type | Destabilised | No activity | Defectivea | Positive | Defective on 4 of 5 criteria |
| BRCA1 5331 G>A (G1738R) | Wild-type | Destabilised | No activity | Defective | Positive | Defective on 4 of 5 criteria |
aResults from assays performed in Lovelock and colleagues [3].