FGF8 p.Ser6=
c.18C>A · rs2065083930 · VCV3033189
Likely benign
No assertion criteria
Classification
Likely benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Not reported
no allele count reported in gnomAD v4.1 (AN 1,408,126)
Conditions
1
FGF8-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 -0.24 | GERP -0.91, phastCons 0.2 |
| Overall | ||
| CADD | 11.58 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
No allele count reported in gnomAD v4.1 (AN 1,408,126). This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.
Variant & gene context
- Gene
- FGF8
- Protein
- p.Ser6=
- Coding
- c.18C>A
- MANE Select
- NM_033163
- dbSNP
- rs2065083930
- Type
- single nucleotide variant
- Location
- chr10:101775883 (GRCh38)
- Gene constraint
- LOEUF 0.765 · pLI 0.06 (gnomAD)
- Structure
- AlphaFold pLDDT 81.34 · 1 PDB
Disease context
FGF8-related disorder
Similar variants
- FGF8 p.Arg206Gln Likely pathogenic ★★ same condition
- FGF8 p.Arg184Cys Uncertain significance ★ ⚠ same condition
- FGF8 p.Leu79= Conflicting classifications of pathogenicity same condition
- FGF8 c.-5G>A Likely benign same condition
- FGF8 c.-8C>G Likely benign same condition
- FGF8 c.157-1G>A Likely pathogenic ★★ same type
- FGF8 p.Arg129Ter Pathogenic/Likely pathogenic ★★ same type
- FGF8 p.Thr119Met Likely 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/fgf8-p-ser6 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown