FANCF p.Val23=
c.69C>T · rs987030810 · VCV1099644
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
Conditions
1
Fanconi anemia
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | all four deltas below 0.2 · G>T here scores Δ0.21 · evaluated, not missing |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -1.9 | GERP -3.4 |
| Overall | ||
| CADD | 5.868 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- FANCF
- Protein
- p.Val23=
- Coding
- c.69C>T
- MANE Select
- NM_022725
- dbSNP
- rs987030810
- Type
- single nucleotide variant
- Location
- chr11:22625742 (GRCh38)
- Structure
- AlphaFold pLDDT 78.87 · 7 PDB
- Residue 23
- a turn
Disease context
Fanconi anemia — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor Hereditary isolated aplastic anemia (Orphanet):
- Inheritance
- Autosomal dominant, Autosomal recessive
- Onset
- Childhood
Similar variants
- FANCF p.Val23Phe Uncertain significance ★★ ⚠ same residue
- FANCF p.Val23Ile Uncertain significance ★★ ⚠ same residue
- FANCF p.Gln65Ter Likely pathogenic ★★ same condition
- FANCF p.Glu220Ter Pathogenic/Likely pathogenic ★★ same condition
- FANCF p.Glu223Ter Pathogenic/Likely pathogenic ★★ same condition
- FANCF p.Met1Arg Pathogenic/Likely pathogenic ★★ same condition
- FANCF p.Ala124Ser Uncertain significance ★★ ⚠ same condition
- FANCF p.Ala206Val 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/fancf-p-val23 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown