FGF10 p.Pro34=
c.102T>G · rs140279180 · VCV757093
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.04%, afr)
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 2.2 | GERP -2.2, phastCons 1 |
| Overall | ||
| CADD | 9.351 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.04%
African / African-American · 30/74,926 alleles
Filtering AF
0.0288%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0249%
Overall
0.00198%
32/1,614,062 alleles · ultra-rare
exomes 9/1,461,888 · genomes 23/152,174 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.04% | 2,498 |
| Admixed American | 0.00167% | 60,006 |
| European (non-Finnish) | 8.47e-05% | 1,180,050 |
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.Pro34=
- Coding
- c.102T>G
- MANE Select
- NM_004465
- dbSNP
- rs140279180
- Type
- single nucleotide variant
- Location
- chr5:44388581 (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.Pro34fs 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-pro34 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown