Fig. 1

Among 1601 BRCA1/2 variants identified in the BioMe Biobank, there were 266 variants not classified in ClinVar (novel) and 635 variants of uncertain significance or with conflicting interpretations of pathogenicity in ClinVar (uncertain/conflicting). The proportion of individuals harboring novel (a) or uncertain/conflicting (b) variants varied across self-reported ancestry categories and was lowest among individuals of European descent (0.8% and 4.1%, respectively). The proportion of individuals harboring novel variants was highest in individuals of South Asian descent (2.3%), and the proportion harboring uncertain/conflicting variants was highest in individuals of African American/African descent (12.2%). AA, African American/African descent; ESA, East/Southeast Asian descent; EA, European descent; HA, Hispanic/Latino descent; SA, South Asian descent