Figure 7.

Profile of functionality of prioritized PALB2 variants. Heat map summarizing the percentage of residual activity for each PALB2 VUS and its predicted pathogenicity profile. In order to facilitate interpretation of the functional data, values were rescaled to a 0–100% scale for each assay, with the mean value for known pathogenic controls set to 0% and the mean value for non-pathogenic controls to 100%. Where applicable, the pathogenic controls considered for mean value calculations were the empty vector and the p.L35P variant while the wild-type and the benign/likely benign variants, p.P864S, p.V932M and p.G998E, were used as non-pathogenic controls. For BRCA1 and BRCA2 interaction, p.L21A and p.A1025R were also taken into account as pathogenic controls.