“…From these, variants Trp2626Cys, Ile2627Phe, Leu2653Pro, and Arg2659Lys had been previously evaluated by multifactorial analysis and classified as pathogenic (Class 5) (Easton et al, 2007). Other variants causing exon 17 skipping (c.7976G > A, c.7976 + 1G > A and c.7976 + 3_7976 + 4del) have been identified in HBOC patients and reported as deleterious (Brandão, Roozendaal, Tserpelis, García, & Blok, 2011;Fraile-Bethencourt et al, 2017;Hofmann, Horn, Hüttner, Classen, & Scherneck, 2003;Thirthagiri et al, 2008;Wu et al, 2005). Moreover, allele-specific assessment was performed in patient RNA for variant c.7976 + 3_7976 + 4del, and only detected transcript lacking exon 17 (Brandão et al, 2011).…”