Table 1.
Calculations of positive predictive value (PPV), negative predictive value (NPV), sensitivity, specificity, and accuracy for BRCA1 (N = 131 Benign, N = 34 Pathogenic) and BRCA2 (N = 129 Benign, N = 13 Pathogenic).
Gene | PolyPhen-2 | SIFT | |||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
HumDiv | HumVar | PPV | NPV (%) | Sensitivity | Specificity | Accuracy | |||||||||
PPV | NPV | Sensitivity | Specificity | Accuracy | PPV | NPV | Sensitivity | Specificity | Accuracy | ||||||
BRCA1 | 32.61% (28.00% to 37.58%) | 94.52% (87.14% to 97.77%) | 88.24% (72.55% to 96.70%) | 52.67% (43.77% to 61.45%) | 60.00% (52.10% to 67.54%) | 33.85% (26.52% to 42.03%) | 88.00% (82.08% to 92.15%) | 64.71% (46.49% to 80.25%) | 67.18% (58.43% to 75.12%) | 66.67% (58.92% to 73.80%) | 32.38% (29.03% to 35.92%) | 100 | 100% (89.72% to 100.00%) | 45.80% (37.07% to 54.73%) | 56.97% (49.04% to 64.64%) |
BRCA2 | 19.12% (16.21% to 22.41) | 100% | 100% (75.29% to 100.00%) | 57.36% (48.36% to 66.03%) | 61.27% (52.74% to 69.32%) | 27.91% (21.52% to 35.33%) | 98.99% (93.70% to 99.85%) | 92.31% (63.97% to 99.81%) | 75.97% (67.66% to 83.05%) | 77.46% (69.70% to 84.05%) | 17.11% (14.74% to 19.76%) | 100 | 100% (75.29% to 100.00%) | 51.16% (42.21% to 60.06%) | 55.63% (47.07% to 63.96%) |