Table 3 Summary of results
Variant | Original odds for causalitya | Original conclusion | Posterior probability of pathogenicity from revised multifactorial likelihood analysis (Table 1) | Functional data (Table 2) | Conclusion |
|---|---|---|---|---|---|
BRCA1 R1699Q | 141:1 | UV | 54.3% | Intermediate on 1 and defective on 2 of 5 criteria | Possible low to moderate risk |
BRCA1 A1708V | 41:1 | UV | 68.8% | Intermediate on 1 and defective on 1 of 5 criteria | Possible low to moderate risk |
BRCA1 A1708E | 262:1 | UV | 99.9% | Defective on 4 of 5 criteria | High risk |
BRCA1 G1738R | 5,871:1 | Pathogenic | 96.3% | Defective on 4 of 5 criteria | High risk |