FBP1 p.Arg26=
c.78C>T · rs1057522940 · VCV387917
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0165%, mid)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -3.7 | GERP -4.5 |
| Overall | ||
| CADD | 3.074 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0165%
Middle Eastern · 1/6,046 alleles
Filtering AF
6.8e-05%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.9e-05%
Overall
0.000345%
5/1,449,288 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 0.0165% | 6,046 |
| Remaining individualsnot grpmax-eligible | 0.00161% | 61,984 |
| European (non-Finnish) | 0.000255% | 391,460 |
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- FBP1
- Protein
- p.Arg26=
- Coding
- c.78C>T
- MANE Select
- NM_000507
- dbSNP
- rs1057522940
- Type
- single nucleotide variant
- Location
- chr9:94639233 (GRCh38)
- Gene constraint
- LOEUF 1.156 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 94.46 · 51 PDB
Similar variants
- FBP1 p.Arg26Cys Uncertain significance ★ ⚠ same residue
- FBP1 c.426+1G>A Pathogenic ★★ same type
- FBP1 c.427-2A>G Likely pathogenic ★★ same type
- FBP1 p.Arg158Trp Pathogenic ★★ same type
- FBP1 p.Asp119Asn Pathogenic/Likely pathogenic ★★ same type
- FBP1 p.Glu281Lys Pathogenic/Likely pathogenic ★★ same type
- FBP1 p.Glu281Ter Pathogenic ★★ same type
- FBP1 p.Gly164Ser Pathogenic/Likely 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/fbp1-p-arg26 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown