From: A new bioinformatics tool to help assess the significance of BRCA1 variants
ClinVar missense variants | ClinVar missense variants with functional data in neXtProt | |||
---|---|---|---|---|
ClinVar classification | Total | Total | Severe/moderate | Normal/mild |
Pathogenic | 50 | 31 | 29 (93%) | 2 (7%) |
Benign | 105 | 60 | 14 (24%) | 46 (77%) |
Conflicting data | 188 | 99 | 49 (50%) | 50 (50%) |
Uncertain significance | 1126 | 244 | 74 (30%) | 170 (70%) |
Unassigned | 77 | 32 | 12 (38%) | 20 (62%) |
Total | 1546 | 466 | 178 | 288 |