FGF10 p.Val67=
c.201G>T · VCV4970288
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00133%, afr)
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 0.56 | GERP -0.42, phastCons 1 |
| Overall | ||
| CADD | 8.523 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00133%
African / African-American · 1/75,040 alleles
Filtering AF
0.000183%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00012%
Overall
0.000434%
7/1,614,100 alleles · very rare
exomes 7/1,461,858 · genomes 0/152,242 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.00133% | 75,040 |
| European (non-Finnish) | 0.000508% | 196,670 |
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
- FGF10
- Protein
- p.Val67=
- Coding
- c.201G>T
- MANE Select
- NM_004465
- Type
- single nucleotide variant
- Location
- chr5:44388482 (GRCh38)
- Gene constraint
- LOEUF 0.267 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 81.12 · 2 PDB
Similar variants
- FGF10 p.Val67fs Pathogenic ★ same residue
- FGF10 p.Arg193Ter Pathogenic/Likely pathogenic ★★ same type
- FGF10 p.Gly64Ter Pathogenic ★★ same type
- FGF10 p.Asn181His Uncertain significance ★★ ⚠ same type
- FGF10 p.Gly64Val Uncertain significance ★★ same type
- FGF10 p.Leu180Ser Uncertain significance ★★ ⚠ same type
- FGF10 p.Met44Val Uncertain significance ★★ ⚠ same type
- FGF10 p.Pro14Leu 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/fgf10-p-val67 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown