FANCF p.Phe248fs
c.743_744del · VCV4911070
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
FANCF-related disorder
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function |
|---|---|---|
| NMD | escapes | premature termination codon in the last exon (1 of 1) — the truncated protein is likely expressed. PVS1 input, not an applied code |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP -0.64 | GERP -0.88 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- FANCF
- Protein
- p.Phe248fs
- Coding
- c.743_744del
- MANE Select
- NM_022725
- Type
- Deletion
- Location
- chr11:22625067 (GRCh38)
- Structure
- AlphaFold pLDDT 78.87 · 7 PDB
- Residue 248
- an α-helix
Disease context
FANCF-related disorder
Similar variants
- FANCF p.Gln219fs Conflicting classifications of pathogenicity ★ same condition
- FANCF p.Leu162fs Pathogenic ★★ same condition
- FANCF p.Glu69Ter Likely pathogenic ★ same condition
- FANCF p.Ile205fs Likely pathogenic ★ same condition
- FANCF p.Arg217= Likely benign same condition
- FANCF p.Ala180fs Pathogenic ★★ same type
- FANCF p.Ala29fs Pathogenic ★★ same type
- FANCF p.Arg74fs Pathogenic ★★ 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/fancf-p-phe248fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown