Table of Contents

Overview

HVCN1, a voltage-gated proton channel, has been identified as recurrently mutated in follicular lymphoma and mutations also appear in some DLBCL.[chapuyMolecularSubtypesDiffuse2018] HVCN1 mutations disrupt its normal function, affecting B-cell receptor (BCR) signaling pathways.[chapuyMolecularSubtypesDiffuse2018] This gene has some recurrent sites of mutations (hot spots) but the function of these mutations is not well understood. The mutation pattern in DLBCL and FL implies the preferential accumulation of inactivating mutations.

Relevance tier by entity

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Mutation incidence in large patient cohorts (GAMBL reanalysis)

Entity Collection N mutated Incidence 95% CI
DLBCL GAMBL without Reddy 1,089 26 0.0239 [0.0148,0.0329]
DLBCL GAMBL with Reddy 2,088 49 0.0235 [0.017,0.03]
DLBCL BC 231 6 0.0260 [0.0055,0.0465]
DLBCL Dana-Farber 303 11 0.0363 [0.0152,0.0574]
DLBCL NCI 470 9 0.0191 [0.0068,0.0315]
DLBCL Reddy 999 23 0.0230 [0.0137,0.0323]
DLBCL DLBCL_ICGC 85 0 0.0012 [0,0.0085]
pathology Collection N mutated Incidence CI
FL GAMBL without Crouch 642 35 0.0545 [0.037,0.0721]
FL GAMBL with Crouch 1,189 35 0.0294 [0.0198,0.039]
FL BC 379 27 0.0712 [0.0453,0.0971]
FL Kalmbach 164 7 0.0427 [0.0117,0.0736]
FL Crouch 547 0 0.0002 [0,0.0013]
FL FL_ICGC 99 1 0.0101 [0,0.0298]

Mutation pattern and selective pressure estimates

Entity Missense dN/dS Nonsense dN/dS Q value
BL 2.0412 0.0000 1
FL 7.8092 77.0744 0
DLBCL 2.9468 18.3010 0

HVCN1 Hotspots

Chromosome Coordinate (hg19) ref>alt HGVSp
chr12 111099150 T>G Y42S
chr12 111099150 T>C Y42C
chr12 111099142 A>T W45R

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Expression

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References

1.
Krysiak K, Gomez F, White BS, Matlock M, Miller CA, Trani L, Fronick CC, Fulton RS, Kreisel F, Cashen AF, Carson KR, Berrien-Elliott MM, Bartlett NL, Griffith M, Griffith OL, Fehniger TA. Recurrent somatic mutations affecting B-cell receptor signaling pathway genes in follicular lymphoma. Blood. 2017 Jan 26;129(4):473–483. PMCID: PMC5270390

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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