FGF3 p.Ala23fs
c.63del · VCV3601129
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
deafness with labyrinthine aplasia, microtia, and microdontia
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function |
|---|---|---|
| NMD | predicted | premature termination codon in exon 1 of 3 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 2.2 | GERP -1.5, phastCons 0.86 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- FGF3
- Protein
- p.Ala23fs
- Coding
- c.63del
- MANE Select
- NM_005247
- Type
- Deletion
- Location
- chr11:69818871 (GRCh38)
- Gene constraint
- LOEUF 1.815 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 79.32
Similar variants
- FGF3 p.Trp16fs Pathogenic/Likely pathogenic ★★ same condition
- FGF3 p.Ala23= Benign ★★ same residue
- FGF3 p.Arg144fs Likely pathogenic ★ same condition
- FGF3 p.Gly90fs Likely pathogenic ★ same condition
- FGF3 p.Ile85fs Pathogenic same condition
- FGF3 p.Val206fs Pathogenic same condition
- FGF3 p.Arg104Ter Pathogenic/Likely pathogenic ★★ same condition
- FGF3 p.Arg209Ter Pathogenic/Likely pathogenic ★★ same condition
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-ala23fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown