ETFB p.Ala94fs
c.278dup · rs869312947 · VCV225063
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
ultra-rare (gnomAD MAF 7.136e-07)
Conditions
1
Inborn genetic diseases
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function |
|---|---|---|
| NMD | predicted | premature termination codon in exon 3 of 6 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP -3.5 | GERP -2.8 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Population frequency
dbSNP / gnomAD
Global frequency
7.14e-05%
via dbSNP · ultra-rare
No ancestry breakdown or filtering allele frequency is available for this variant, so BA1/BS1 cannot be assessed from this figure alone.
Variant & gene context
- Gene
- ETFB
- Protein
- p.Ala94fs
- Coding
- c.278dup
- MANE Select
- NM_001985
- dbSNP
- rs869312947
- Type
- Duplication
- Location
- chr19:51353228 (GRCh38)
- Gene constraint
- LOEUF 1.1 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 96.19 · 4 PDB
- Residue 94
- an α-helix
Similar variants
- ETFB p.Ala94Glu Uncertain significance ★ ⚠ same residue
- ETFB p.Ala94= Likely benign ★ same residue
- ETFB p.Ala83Thr Uncertain significance ★★ ⚠ same condition
- ETFB p.Arg174Cys Uncertain significance ★★ ⚠ same condition
- ETFB p.Arg233Cys Uncertain significance ★★ ⚠ same condition
- ETFB p.Arg254Gln Uncertain significance ★★ ⚠ same condition
- ETFB p.Arg51Gln Uncertain significance ★★ ⚠ same condition
- ETFB p.Arg76His 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/etfb-p-ala94fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown