Figure 2.

Potentially pathogenic germline variants reported in the literature mapped to full length BARD1 transcript including RING, ANK and BRCT encoding domains. (A) Predicted loss-of-function variants including nonsense, frameshift and canonical splice site variants. (B) Missense variants predicted to be damaging by in silico tools and conservation tools. (C) Variants discussed in the review. RING = Really Interesting New Gene domain; ANK = Ankyrin domain; BRCT = BRCA1 C Terminus domain. See Supplementary Table S1 for more information.