EZH2 p.Ala336fs
c.1004dup · VCV4886253
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
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 10 of 20 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 1.9 | GERP -0.73, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- EZH2
- Protein
- p.Ala336fs
- Coding
- c.1004dup
- MANE Select
- NM_004456
- Type
- Duplication
- Location
- chr7:148818112 (GRCh38)
- Gene constraint
- LOEUF 0.272 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 76.58 · 41 PDB
- Residue 336
- the 'interaction with dnmt1, dnmt3a and dnmt3b' region; the 'interaction with cdyl' region; an α-helix
Similar variants
- EZH2 p.Asp730Ter Pathogenic/Likely pathogenic ★★ same type
- EZH2 c.1672+2dup Uncertain significance ★★ same type
- EZH2 c.118-4dup Benign/Likely benign ★★ same type
- EZH2 c.247-15dup Benign/Likely benign ★★ same type
- EZH2 c.364-14dup Benign/Likely benign ★★ same type
- EZH2 c.2196-10_2197dup Likely pathogenic ★ same type
- EZH2 p.Lys740dup Likely pathogenic ★ same type
- EZH2 c.2111-3_2115dup Uncertain significance ★ same type
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/ezh2-p-ala336fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown