ETFA p.Pro7fs
c.19_20insAGGGGCAGCTC · VCV4925907
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
ETFA-related disorders
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 1 of 12 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 5.8 | GERP 1.3, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- ETFA
- Protein
- p.Pro7fs
- Coding
- c.19_20insAGGGGCAGCTC
- MANE Select
- NM_000126
- Type
- Insertion
- Location
- chr15:76311369 (GRCh38)
- Gene constraint
- LOEUF 1.166 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 94.00 · 4 PDB
Disease context
ETFA-related disorders
Similar variants
- ETFA p.Pro7Leu Conflicting classifications of pathogenicity ★ ⚠ same residue
- ETFA p.Pro7= Likely benign ★ same residue
- ETFA c.658_664+3del Likely pathogenic ★★ same condition
- ETFA p.Arg122Lys Likely pathogenic ★★ same condition
- ETFA p.Arg18Ter Pathogenic/Likely pathogenic ★★ same condition
- ETFA p.Arg209Ter Pathogenic/Likely pathogenic ★★ same condition
- ETFA p.Arg223Ter Pathogenic/Likely pathogenic ★★ same condition
- ETFA p.Gln65Ter 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/etfa-p-pro7fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown