FGF8 p.Ala31=
c.93G>A · rs772729821 · VCV1649848
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 3 submitters
gnomAD v4.1
Rare
ultra-rare (popmax 0.0464%, eas)
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 1.2 | GERP -0.75, phastCons 1 |
| Overall | ||
| CADD | 10.09 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0464%
East Asian · 19/40,916 alleles
Filtering AF
0.0304%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0252%
Overall
0.0064%
99/1,547,762 alleles · ultra-rare
exomes 92/1,395,522 · genomes 7/152,240 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 0.0464% | 2,153 |
| African / African-American | 0.0192% | 5,215 |
| European (non-Finnish) | 0.00558% | 17,917 |
| Ashkenazi Jewishnot grpmax-eligible | 0.00349% | 28,640 |
| Remaining individualsnot grpmax-eligible | 0.00167% | 59,876 |
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.Ala31=
- Coding
- c.93G>A
- MANE Select
- NM_033163
- dbSNP
- rs772729821
- Type
- single nucleotide variant
- Location
- chr10:101775193 (GRCh38)
- Gene constraint
- LOEUF 0.765 · pLI 0.06 (gnomAD)
- Structure
- AlphaFold pLDDT 81.34 · 1 PDB
Similar variants
- FGF8 p.Ala31Glu 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
- FGF8 p.Arg195Trp 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-ala31 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown