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)

DLBCL

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]

FL

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Mutation pattern and selective pressure estimates

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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

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