EFTUD2 p.Ser897fs
c.2688_2689dup · VCV3365998
Likely pathogenic
Single submitter
Classification
Likely pathogenic
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 haploinsufficient gene (ClinGen) |
|---|---|---|
| NMD | predicted | premature termination codon in exon 26 of 28 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 12 | GERP 2.7, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- EFTUD2
- Protein
- p.Ser897fs
- Coding
- c.2688_2689dup
- MANE Select
- NM_004247
- Type
- Duplication
- Location
- chr17:44852434 (GRCh38)
- Gene constraint
- LOEUF 0.145 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 89.94 · 72 PDB
- Residue 897
- a β-strand
Similar variants
- EFTUD2 c.272-8dup Benign/Likely benign ★★ same type
- EFTUD2 p.Ala676fs Likely pathogenic ★ same type
- EFTUD2 p.Arg785fs Pathogenic ★ same type
- EFTUD2 p.Arg919fs Likely pathogenic ★ same type
- EFTUD2 p.Arg939fs Likely pathogenic ★ same type
- EFTUD2 p.Asn548fs Likely pathogenic ★ same type
- EFTUD2 p.Cys468fs Pathogenic ★ same type
- EFTUD2 p.Gln313fs Pathogenic ★ 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/eftud2-p-ser897fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown