HDAC10

Chr 22

histone deacetylase 10

Also known as: HD10

The protein functions primarily as a polyamine deacetylase that acts preferentially on N(8)-acetylspermidine and may play roles in autophagy and DNA repair processes. Mutations in this gene have not been definitively associated with human disease based on the available data. The gene shows very low constraint against loss-of-function variants (pLI near 0), suggesting that complete loss of function may be well tolerated.

OMIMResearchSummary from RefSeq, UniProt
DNmechanismLOEUF 1.51
Clinical SummaryHDAC10
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
143 unique Pathogenic / Likely Pathogenic· 121 VUS of 310 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint
1.51LOEUF
pLI 0.000
Z-score -0.95
OE 1.17 (0.921.51)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
-0.45Z-score
OE missense 1.06 (0.981.15)
423 obs / 397.7 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE1.17 (0.921.51)
00.351.4
Missense OE1.06 (0.981.15)
00.61.4
Synonymous OE1.15
01.21.6
LoF obs/exp: 43 / 36.8Missense obs/exp: 423 / 397.7Syn Z: -1.64
DN
0.6259th %ile
GOF
0.4973th %ile
LOF
0.3844th %ile

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

310 submitted variants in ClinVar

Classification Summary

Pathogenic140
Likely Pathogenic3
VUS121
Likely Benign8
Benign1
140
Pathogenic
3
Likely Pathogenic
121
VUS
8
Likely Benign
1
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
140
0
140
Likely Pathogenic
0
0
3
0
3
VUS
0
110
11
0
121
Likely Benign
0
6
2
0
8
Benign
0
0
1
0
1
Total01161570273

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

HDAC10 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
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