Fig. 2

Association analysis of 72 prioritized variants with conflicting data on pathogenicity to HBOC risk. The risk association analyses were performed comparing the allele frequencies identified in our HBOC cohort to frequencies found in public databases (*) AbraOM, ExAC and 1000 Genomes. In ClinVar status ($), B = Benign; LB = Likely Benign; US = Uncertain Significance; P = Pathogenic; Conflicting = when presenting conflicting interpretations of pathogenicity. The association was made using Fisher’s exact test, and the p-values were assessed using the Pearson’s X² test. The lack of allele frequencies in the databases made us unable to estimate the odds ratios (OR). The variants in red are those significantly associated with HBOC risk. NA = Not available (allele frequencies not reported by any populational database, or when was not possible to calculate the p-value due to the lack of allele frequency in the populational databases)