FLNB p.Pro2279=
c.6837G>A · rs146734593 · VCV1018081
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
ultra-rare (popmax 0.0633%, amr)
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 -20 | GERP -5.7 |
| Overall | ||
| CADD | 0.063 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0633%
Admixed American · 38/60,026 alleles
Filtering AF
0.0474%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0418%
Overall
0.00719%
116/1,614,124 alleles · ultra-rare
exomes 73/1,461,806 · genomes 43/152,318 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.0633% | 1,580 |
| Remaining individualsnot grpmax-eligible | 0.0256% | 3,906 |
| African / African-American | 0.0253% | 3,950 |
| East Asian | 0.00668% | 14,965 |
| South Asian | 0.00439% | 22,768 |
| European (non-Finnish) | 0.00305% | 32,778 |
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
- FLNB
- Protein
- p.Pro2279=
- Coding
- c.6837G>A
- MANE Select
- NM_001457
- dbSNP
- rs146734593
- Type
- single nucleotide variant
- Location
- chr3:58156024 (GRCh38)
- Gene constraint
- LOEUF 0.504 · pLI <0.01 · ClinGen HI 0/3 (gnomAD)
- Structure
- AlphaFold pLDDT 76.96 · 23 PDB
- Residue 2279
- a β-strand; the 'interaction with inppl1' region
Similar variants
- FLNB p.Pro2279Arg Uncertain significance ★ ⚠ same residue
- FLNB p.Pro2279Leu Uncertain significance ★ ⚠ same residue
- FLNB c.4390+2T>C Pathogenic/Likely pathogenic ★★ same type
- FLNB c.5110-1G>A Likely pathogenic ★★ same type
- FLNB p.Arg1463Ter Pathogenic/Likely pathogenic ★★ same type
- FLNB p.Arg1948Ter Pathogenic ★★ same type
- FLNB p.Arg649Ter Pathogenic ★★ same type
- FLNB p.Asp167Gly 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/flnb-p-pro2279 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown