FigureĀ 5.
ACMG classification of germ line ERG variants.ERG variants were classified using the ACMG and the Association for Molecular Pathology criteria for cytopenias, HMs, and/or lymphedema (#). Based on functional assay criteria, variants with complete LOF in at least 1 functional assay were classified as PS3_Strong, variants with hypomorphic activity (<50%) in 1 or more functional assays were classified as PS3_Moderate, and variants with hypomorphic activity (>50%) in 1 or more assays were classified as PS3_Supporting. The PS3 and BS3 criteria were not applied when variants showed no change in functional assays or were not tested. PNT, pointed domain.