DNMT3A p.Gly266=
c.798G>A · VCV3841749
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
Conditions
1
Inborn genetic diseases
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 0.019 | GERP -3.7, phastCons 0.83 |
| Overall | ||
| CADD | 1.344 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- DNMT3A
- Protein
- p.Gly266=
- Coding
- c.798G>A
- MANE Select
- NM_022552
- Type
- single nucleotide variant
- Location
- chr2:25248094 (GRCh38)
- Gene constraint
- LOEUF 1.998 · pLI <0.01 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 73.97 · 47 PDB
- Residue 266
- the 'interaction with dnmt1 and dnmt3b' region; the 'disordered' region
Similar variants
- DNMT3A p.Arg301Trp Pathogenic/Likely pathogenic ★★ same condition
- DNMT3A p.Arg320Ter Pathogenic/Likely pathogenic ★★ same condition
- DNMT3A p.Arg688His Pathogenic/Likely pathogenic ★★ same condition
- DNMT3A p.Met548Thr Pathogenic/Likely pathogenic ★★ same condition
- DNMT3A p.Pro904Leu Pathogenic/Likely pathogenic ★★ same condition
- DNMT3A c.448+48C>G Uncertain significance ★★ same condition
- DNMT3A p.Arg544His Uncertain significance ★★ ⚠ same condition
- DNMT3A p.Arg596Gln Uncertain significance ★★ ⚠ 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/dnmt3a-p-gly266 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown