FOXL2 p.Pro309fs
c.926del · VCV3384077
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
blepharophimosis
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 | escapes | premature termination codon in the last exon (1 of 1) — the truncated protein is likely expressed. PVS1 input, not an applied code |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP -1.6 | GERP -8.2 |
| Region caveats | ||
| Repeat context | tandem | (GGC)n simple repeat · ambiguous alignment · confidence, not pathogenicity |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- FOXL2
- Protein
- p.Pro309fs
- Coding
- c.926del
- MANE Select
- NM_023067
- Type
- Deletion
- Location
- chr3:138945797 (GRCh38)
- Gene constraint
- LOEUF 1.913 · pLI 0.03 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 61.89 · 2 PDB
- Residue 309
- the 'disordered' region
Similar variants
- FOXL2 p.Asp131fs Pathogenic/Likely pathogenic ★★ same type
- FOXL2 p.Gly269fs Pathogenic ★★ same type
- FOXL2 p.Ala14fs Likely pathogenic ★ same type
- FOXL2 p.Ala179fs Pathogenic ★ same type
- FOXL2 p.Ala183fs Pathogenic ★ same type
- FOXL2 p.Ala221fs Pathogenic ★ same type
- FOXL2 p.Ala225_Ala234del Likely pathogenic ★ same type
- FOXL2 p.Ala225fs 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/foxl2-p-pro309fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown