FECH p.Glu347fs
c.1041_1048del · VCV3609777
Pathogenic
Single submitter
Classification
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 |
|---|---|---|
| NMD | predicted | premature termination codon in exon 9 of 11 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 11 | GERP 1.9, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- FECH
- Protein
- p.Glu347fs
- Coding
- c.1041_1048del
- MANE Select
- NM_000140
- Type
- Deletion
- Location
- chr18:57554289 (GRCh38)
- Gene constraint
- LOEUF 0.859 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 87.37 · 25 PDB
- Residue 347
- an α-helix
Similar variants
- FECH p.Ala14fs Pathogenic ★★ same type
- FECH p.Asp316fs Pathogenic/Likely pathogenic ★★ same type
- FECH p.Lys379fs Pathogenic/Likely pathogenic ★★ same type
- FECH p.Tyr194fs Pathogenic ★★ same type
- FECH c.1077+1del Pathogenic ★ same type
- FECH p.Gln122fs Likely pathogenic ★ same type
- FECH p.Gly16fs Likely pathogenic ★ same type
- FECH p.Ile134fs 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/fech-p-glu347fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown