ENG p.Phe314fs
c.942del · VCV4735417
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
hereditary hemorrhagic telangiectasia
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 7 of 15 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 3.9 | GERP 1.6, phastCons 0.24 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- ENG
- Protein
- p.Phe314fs
- Coding
- c.942del
- MANE Select
- NM_001114753
- Type
- Deletion
- Location
- chr9:127824849 (GRCh38)
- Gene constraint
- LOEUF 0.374 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 80.84 · 3 PDB
- Residue 314
- a β-strand; a disulfide bond; the 'required for interaction with gdf2' region; the 'or1, c-terminal part' region
Disease context
hereditary hemorrhagic telangiectasia — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor Hereditary hemorrhagic telangiectasia (Orphanet):
- Inheritance
- Autosomal dominant
- Onset
- All ages
- Prevalence
- 1-5 / 10 000 (Europe)
Similar variants
- ENG p.Phe314= Likely benign ★★ same residue
- ENG c.1687delG Pathogenic ★★ same condition
- ENG p.Ala55fs Pathogenic ★★ same condition
- ENG p.Arg232_Thr233del Likely pathogenic ★★ same condition
- ENG p.Arg399fs Pathogenic/Likely pathogenic ★★ same condition
- ENG p.Asn163fs Pathogenic/Likely pathogenic ★★ same condition
- ENG p.Asn423fs Pathogenic ★★ same condition
- ENG p.Asp578fs Pathogenic/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/eng-p-phe314fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown