HDAC2 p.Ala445fs
c.1334del · VCV4879199
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
HDAC-related disorder
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function in a LoF-intolerant gene |
|---|---|---|
| NMD | predicted | premature termination codon in exon 12 of 14 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 0.37 | GERP -3.8, phastCons 0.65 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- HDAC2
- Protein
- p.Ala445fs
- Coding
- c.1334del
- MANE Select
- NM_001527
- Type
- Deletion
- Location
- chr6:113943395 (GRCh38)
- Gene constraint
- LOEUF 0.367 · pLI 0.99 (gnomAD)
- Structure
- AlphaFold pLDDT 86.01 · 48 PDB
- Residue 445
- the 'disordered' region
Disease context
HDAC-related disorder
Similar variants
- HDAC2 p.Lys440fs Uncertain significance same condition
- HDAC2 p.Glu186Ala Uncertain significance ⚠ same condition
- HDAC2 c.1222+7T>C Likely benign same condition
- HDAC2 c.359-9A>G Likely benign same condition
- HDAC2 c.497+8A>C Likely benign same condition
- HDAC2 p.Phe206= Likely benign same condition
Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →
Cite Sugi Variant
Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/hdac2-p-ala445fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown