FGF3 p.Val137=
c.411G>A · rs1350660934 · VCV2119446
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
very rare (popmax 8.49e-05%, nfe)
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 -2.5 | GERP -1.4 |
| Overall | ||
| CADD | 3.121 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
8.49e-05%
European (non-Finnish) · 1/1,177,446 alleles
Overall
6.21e-05%
1/1,609,498 alleles · very rare
exomes 1/1,457,134 · genomes 0/152,364 · joint denominator
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
- FGF3
- Protein
- p.Val137=
- Coding
- c.411G>A
- MANE Select
- NM_005247
- dbSNP
- rs1350660934
- Type
- single nucleotide variant
- Location
- chr11:69810614 (GRCh38)
- Gene constraint
- LOEUF 1.815 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 79.32
Similar variants
- FGF3 p.Arg104Ter Pathogenic/Likely pathogenic ★★ same type
- FGF3 p.Arg209Ter Pathogenic/Likely pathogenic ★★ same type
- FGF3 p.Arg95Trp Pathogenic/Likely pathogenic ★★ same type
- FGF3 p.Tyr106Ter Pathogenic/Likely pathogenic ★★ same type
- FGF3 p.Arg132Trp Uncertain significance ★★ ⚠ same type
- FGF3 p.Arg145Gln Uncertain significance ★★ ⚠ same type
- FGF3 p.Arg171His Uncertain significance ★★ ⚠ same type
- FGF3 p.Asp184Val 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/fgf3-p-val137 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown