FLNB p.Pro1080=
c.3240G>A · rs77989135 · VCV346331
Benign/Likely benign
Multiple submitters
Classification
Benign/Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 9 submitters
gnomAD v4.1
Rare
low-frequency (popmax 1%, afr)
Conditions
1
connective tissue disorder
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 -15 | GERP -5.4 |
| Overall | ||
| CADD | 0.167 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
1%
African / African-American · 751/75,014 alleles
Filtering AF
0.942%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.918%
Overall
0.0711%
1,147/1,613,980 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 1% | 100 |
| Middle Eastern | 0.132% | 758 |
| Admixed American | 0.115% | 870 |
| Remaining individualsnot grpmax-eligible | 0.0832% | 1,202 |
| Ashkenazi Jewishnot grpmax-eligible | 0.0642% | 1,558 |
| European (non-Finnish) | 0.0204% | 4,896 |
| South Asian | 0.00659% | 15,180 |
| East Asian | 0.00223% | 44,878 |
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.Pro1080=
- Coding
- c.3240G>A
- MANE Select
- NM_001457
- dbSNP
- rs77989135
- Type
- single nucleotide variant
- Location
- chr3:58123206 (GRCh38)
- Gene constraint
- LOEUF 0.504 · pLI <0.01 · ClinGen HI 0/3 (gnomAD)
- Structure
- AlphaFold pLDDT 76.96 · 23 PDB
- Residue 1080
- a β-strand
Similar variants
- FLNB p.Pro1080Leu Uncertain significance ★★ ⚠ same residue
- FLNB p.Phe161Cys Likely pathogenic ★★ same condition
- FLNB p.Gly496Cys Uncertain significance ★★ ⚠ same condition
- FLNB p.Thr1003Met Uncertain significance ★★ ⚠ same condition
- FLNB p.Thr1579Ile Uncertain significance ★★ ⚠ same condition
- FLNB c.1611-4G>A Benign ★★ same condition
- FLNB c.292+8C>A Benign/Likely benign ★★ same condition
- FLNB c.4222+8A>G Benign/Likely benign ★★ 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/flnb-p-pro1080 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown