Research Article
Predicting Ovarian/Breast Cancer Pathogenic Risks of Human BRCA1 Gene Variants of Unknown Significance
Table 4
Overview of predictive results for 6321 BRCA1 VUS pathogenic risks.
| Class | Clinical significance (ClinVar database) | Variant amount | Number of predictive pathogenic variants (%) | Number of predictive benign variants (%) |
| 1 | Likely benign | 937 | 227 (24.22%) | 710 (75.78%) | 2 | Likely pathogenic | 82 | 25 (30.49%) | 57 (69.51%) | 3 | Not provided | 2797 | 621 (22.20%) | 2176 (77.80%) | 4 | Uncertain significance | 2235 | 644 (28.81%) | 1591 (71.19%) | 5 | Conflicting interpretations of pathogenicity | 264 | 74 (28.03%) | 190 (71.97%) | 6 | Total | 6315 | 1591 (25.19%) | 4724 (74.81%) |
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