[BCL7A]

Mutation tier

Entity Tier
BL 2
DLBCL 1
FL 1

Mutation incidence

Entity study frequency (%)
BL GAMBL genomes+capture 5.31
BL Thomas cohort 5.50
BL Panea cohort 5.00
DLBCL GAMBL genomes 8.80
DLBCL Schmitz cohort 10.60
DLBCL Reddy cohort 8.40
DLBCL Chapuy cohort 6.40
FL GAMBL genomes 13.86

Mutation pattern

Entity aSHM Significant selection dN/dS (missense) dN/dS (nonsense)
BL Yes Yes 9.127 46.248
DLBCL Yes Yes 22.635 0.000
FL Yes Yes 55.348 146.110

aSHM regions

chr_name hg19_start hg19_end region regulatory_comment
chr12 122456912 122464036 TSS poised_promoter

[!NOTE] First described in BL in 2019 by Grande BM