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.

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.

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