FOXL2 p.Pro212=
c.636C>T · rs955582660 · VCV3030796
Likely benign
No assertion criteria
Classification
Likely benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0207%, afr)
Conditions
1
FOXL2-related disorder
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | no splice effect predicted · four deltas, not one · how we know |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 4.9 | GERP 2.1, phastCons 1 |
| Overall | ||
| CADD | 12.0 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0207%
African / African-American · 14/67,540 alleles
Filtering AF
0.0125%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00996%
Overall
0.00102%
15/1,468,612 alleles · ultra-rare
exomes 3/1,316,714 · genomes 12/151,898 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.0207% | 4,824 |
| East Asian | 0.00292% | 34,260 |
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- FOXL2
- Protein
- p.Pro212=
- Coding
- c.636C>T
- MANE Select
- NM_023067
- dbSNP
- rs955582660
- Type
- single nucleotide variant
- Location
- chr3:138946087 (GRCh38)
- Gene constraint
- LOEUF 1.913 · pLI 0.03 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 61.89 · 2 PDB
Disease context
FOXL2-related disorder
Similar variants
- FOXL2 p.Pro212Ala Uncertain significance ★★ ⚠ same residue
- FOXL2 p.Gln219Ter Pathogenic ★★ same condition
- FOXL2 p.Ser217Phe Pathogenic/Likely pathogenic ★★ same condition
- FOXL2 p.Tyr215Cys Pathogenic/Likely pathogenic ★★ ⚠ same condition
- FOXL2 p.Ser217Cys Pathogenic ★ same condition
- FOXL2 p.Ser58Leu Likely pathogenic ★ same condition
- FOXL2 p.Trp128Gly Likely pathogenic ★ same condition
- FOXL2 p.Ser372Leu 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/foxl2-p-pro212 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown