Figure 5.

VarCall analysis of missense variants in the C-terminal region of the BRCA1 protein. A, in this study, transcriptional assays were performed for 99 missense variants (blue bars). Results of these transcriptional assays were combined with previous data (25) (combined dataset of 347 variants) and analyzed using VarCall to predict the likelihood of pathogenicity. See Fig. S3, a high resolution version, for additional details and variant labels. B, circos plot illustrates how the new series of variants improves classification for all variants. Variants assigned to fClasses (1–5) in Woods et al. (25) (denoted as Previous fClass 1–5) were re-assessed by VarCall (denoted as New fClass 1–5) after including the set of variants in the present study. C, fraction of variants tested that displayed impact on function grouped by structural features.