Table of Contents

Relevance tier by entity

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Warnings

The variants reported in BL in this gene failed QC

See below or the study page for more information

Mutation incidence in large patient cohorts (GAMBL reanalysis)

Entity source frequency (%)
BL GAMBL genomes+capture 1.39
BL Thomas cohort 2.50
BL Panea cohort 1.00
DLBCL GAMBL genomes 3.44
DLBCL Schmitz cohort 3.62
DLBCL Reddy cohort 1.90
DLBCL Chapuy cohort 2.99
FL GAMBL genomes 2.08

Mutation pattern and selective pressure estimates

Entity aSHM Significant selection dN/dS (missense) dN/dS (nonsense)
BL No No 3.809 0
DLBCL No No 5.602 0
FL No No 0.405 0

HIST1H2AG Hotspots

Chromosome Coordinate (hg19) ref>alt HGVSp
chr6 27101075 G>T K75N
chr6 27101083 G>A R78H
chr6 27101100 C>G L84V
chr6 27101126 G>T E92D
chr6 27101130 C>G L94V

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1.
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2.
Rossi D, Trifonov V, Fangazio M, Bruscaggin A, Rasi S, Spina V, Monti S, Vaisitti T, Arruga F, Famà R, Ciardullo C, Greco M, Cresta S, Piranda D, Holmes A, Fabbri G, Messina M, Rinaldi A, Wang J, Agostinelli C, Piccaluga PP, Lucioni M, Tabbò F, Serra R, Franceschetti S, Deambrogi C, Daniele G, Gattei V, Marasca R, Facchetti F, Arcaini L, Inghirami G, Bertoni F, Pileri SA, Deaglio S, Foà R, Dalla-Favera R, Pasqualucci L, Rabadan R, Gaidano G. The coding genome of splenic marginal zone lymphoma: Activation of NOTCH2 and other pathways regulating marginal zone development. J Exp Med. 2012 Aug 27;209(9):1537–1551. PMCID: PMC3428941

Citing

If you use the information or data from this site, please cite

Krysta Coyle, Kostiantyn Dreval, Daniel Hodson and Ryan D. Morin. Audit of B-cell cancer genes. Blood Adv (2025) 9 (8): 2019–2031.

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