“…Three previously characterized ESE variants, c.8378G>A (exon 19), c.8969G>A (exon 23), and c.9006A>T (exon 23) (Acedo et al, 2012), lie within microdeletions shown to impact mRNA splicing, thereby demonstrating the utility of this strategy to locate putative ESE variants (Acedo et al, 2015). Fraile‐Bethencourt et al adapted this systematic minigene assay approach to map active ESEs in BRCA2 exons 2–9 and 14–18 (Fraile‐Bethencourt et al, 2017; Fraile‐Bethencourt, Valenzuela‐Palomo, Díez‐Gómez, Acedo, & Velasco, 2018; Fraile‐Bethencourt, Valenzuela‐Palomo, Díez‐Gómez, Caloca, et al, 2019; Fraile‐Bethencourt, Valenzuela‐Palomo, Díez‐Gómez, Goina, et al, 2019). Selection of variants within the microdeletion‐mapped ESEs improved the specificity of bioinformatic predictions (Fraile‐Bethencourt, Valenzuela‐Palomo, Díez‐Gómez, Goina, et al, 2019).…”