Experimentally observed effects on mRNA splicing of group B variants and predicted protein change.

aProtein change was predicted using ExPASy Proteomics Server. (http://www.expasy.ch/);bThe classification as class 5 (pathogenic) or class 4 (likely pathogenic) was based on mono- or bi-allelic expression of the normal transcript [23], that of class 2 (likely neutral) on A-GVGD software prediction (http://agvgd.iarc.fr/). Previously characterized variants are indicated;c[22], [50];d[22], [46];e[22], [47], [49];f[21];g[19], [44], [45];h[21], [26];i[20], [22];j[11], [18], [22], [48]. An asterisk indicates variants for which the observed transcript pattern differed from that reported by previous studies (see Table S6). Abbreviations: SS, splice Site (D, donor; A, acceptor); BIC, Breast Cancer Information Core (http://research.nhgri.nih.gov/bic/); HGVS, Human Genetic Variation Society (http://www.hgvs.org/mutnomen/).