FANCF p.Pro185Asp
c.552_554inv · VCV2078158
Uncertain significance
Multiple submitters
Classification
Uncertain significance
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
Conditions
2
Fanconi anemia
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 3.2 | GERP 1.8, phastCons 0.41 |
| Regional constraint | o/e 1.15 | unconstrained · MANE · 1,121 bp · p 0.0014 · regional, not allelic |
Variant & gene context
- Gene
- FANCF
- Protein
- p.Pro185Asp
- Coding
- c.552_554inv
- MANE Select
- NM_022725
- Type
- Inversion
- Location
- chr11:22625257 (GRCh38)
- Structure
- AlphaFold pLDDT 78.87 · 7 PDB
Disease context
Fanconi anemia — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsAlso linked: Fanconi anemia complementation group F
For Hereditary isolated aplastic anemia (Orphanet):
- Inheritance
- Autosomal dominant, Autosomal recessive
- Onset
- Childhood
Similar variants
- FANCF p.Pro185= Conflicting classifications of pathogenicity ★ same residue
- FANCF p.Pro185Ser Uncertain significance ★ ⚠ same residue
- FANCF p.Ala180fs Pathogenic ★★ same condition
- FANCF p.Ala29fs Pathogenic ★★ same condition
- FANCF p.Arg74fs Pathogenic ★★ same condition
- FANCF p.Asp9fs Pathogenic ★★ same condition
- FANCF p.Cys89_Asp90delinsTer Pathogenic/Likely pathogenic ★★ same condition
- FANCF p.Gln130fs 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/fancf-p-pro185asp (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown