FGF8 p.Arg233=
c.699C>T · VCV4909320
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00113%, sas)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -5.4 | GERP -4.2 |
| Overall | ||
| CADD | 5.087 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00113%
South Asian · 1/88,788 alleles
Filtering AF
0.000502%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.000367%
Overall
0.00075%
12/1,599,778 alleles · very rare
exomes 10/1,447,586 · genomes 2/152,192 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 0.00113% | 88,788 |
| European (non-Finnish) | 0.000936% | 106,817 |
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
- FGF8
- Protein
- p.Arg233=
- Coding
- c.699C>T
- MANE Select
- NM_033163
- Type
- single nucleotide variant
- Location
- chr10:101770365 (GRCh38)
- Gene constraint
- LOEUF 0.765 · pLI 0.06 (gnomAD)
- Structure
- AlphaFold pLDDT 81.34 · 1 PDB
Similar variants
- FGF8 p.Arg233Cys Uncertain significance ★★ ⚠ same residue
- FGF8 p.Arg233His Uncertain significance ★ ⚠ same residue
- FGF8 c.157-1G>A Likely pathogenic ★★ same type
- FGF8 p.Arg129Ter Pathogenic/Likely pathogenic ★★ same type
- FGF8 p.Arg206Gln Likely pathogenic ★★ same type
- FGF8 p.Thr119Met Likely pathogenic ★★ same type
- FGF8 c.157-11A>G Uncertain significance ★★ same type
- FGF8 p.Ala147Thr Uncertain significance ★★ ⚠ 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/fgf8-p-arg233 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown