Remarkably, our study highlights the relevant contribution of predicted missense variations to anomalous splicing as a mechanism of disease susceptibility, as we have already shown in the other BC genes, such as BRCA2 c.451G>A (p.(Val151Ile)) or CHEK2 c.883G>A (p.(Glu295Lys)) and c.884A>T (p.(Glu295Val)) [8]. The gene discussed is BRCA2; the disease is breast cancer.