EFTUD2 c.2565del
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
Conditions
1
mandibulofacial dysostosis-microcephaly syndrome
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 12 | GERP 2.7, phastCons 1 |
| Non-coding constraint | Z 3.52 | 1 kb window · o/e 0.75 · regional · uncalibrated |
Variant & gene context
- Gene
- EFTUD2
- Coding
- c.2565del
- MANE Select
- NM_004247
- Type
- Deletion
- Location
- chr17:44852559 (GRCh38)
- Gene constraint
- LOEUF 0.145 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 89.94 · 72 PDB
Similar variants
- EFTUD2 c.2562-2_2562-1del Pathogenic/Likely pathogenic ★★ same condition
- EFTUD2 c.2562-2del Pathogenic ★★ same condition
- EFTUD2 c.702+1del Pathogenic ★★ same condition
- EFTUD2 p.Leu190fs Pathogenic/Likely pathogenic ★★ same condition
- EFTUD2 p.Leu474fs Pathogenic ★★ same condition
- EFTUD2 p.Met433fs Pathogenic ★★ same condition
- EFTUD2 c.1058+3_1058+7del Benign/Likely benign ★★ same condition
- EFTUD2 c.(350+1_351-1 Likely pathogenic ★ 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/eftud2-c-2565del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown