Fig. 1: Distributions of missense variants in BRCA1 and BRCA2.
From: Systematic misclassification of missense variants in BRCA1 and BRCA2 “coldspots”
Missense variants are indicated by lollipops. For each gene, distributions of pathogenic and likely pathogenic (P/LP) missense variants are shown in orange above the gene and of variants of uncertain signficance (VUS) in gray below the gene. BRCA1 exon 11 and BRCA2 exons 10 and 11 harbor no P or LP missense variants and are defined as coldspots. We suggest reclassifying the 3115 VUS in these coldspots as likely benign.
