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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