Table 2 Correlation between ClinVar pathogenicity assessment and functional defects of BRCA1 variants annotated in neXtProt Cancer variant portal. Only missense variants are compared (that is, variants causing potential aberrantly spliced products were excluded). The percentage of variants having severe/moderate or normal/mild functional phenotypes for each ClinVar pathogenicity class is shown
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 |