FOXF1 p.Phe82fs
c.245_246insA · VCV4755386
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
alveolar capillary dysplasia with misalignment of pulmonary veins
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function in a haploinsufficient gene (ClinGen) |
|---|---|---|
| NMD | predicted | premature termination codon in exon 1 of 2 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 7.7 | GERP 1.8, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- FOXF1
- Protein
- p.Phe82fs
- Coding
- c.245_246insA
- MANE Select
- NM_001451
- Type
- Insertion
- Location
- chr16:86510814 (GRCh38)
- Gene constraint
- LOEUF 0.685 · pLI 0.43 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 59.41
- Residue 82
- a DNA-binding region
Disease context
alveolar capillary dysplasia with misalignment of pulmonary veins — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor Congenital alveolar capillary dysplasia (Orphanet):
- Inheritance
- Autosomal dominant
- Onset
- Infancy, Neonatal
- Prevalence
- 1-9 / 100 000 (Canada)
Similar variants
- FOXF1 p.Phe82Leu Pathogenic ★ same residue
- FOXF1 p.Ala231fs Pathogenic ★★ same condition
- FOXF1 p.Gln90Ter Pathogenic ★★ same condition
- FOXF1 p.Glu104Ter Pathogenic ★★ same condition
- FOXF1 p.Leu300fs Pathogenic/Likely pathogenic ★★ same condition
- FOXF1 p.Leu56Val Likely pathogenic ★★ same condition
- FOXF1 p.Ser223Ter Pathogenic ★★ same condition
- FOXF1 p.His357Leu Uncertain significance ★★ ⚠ 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/foxf1-p-phe82fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown