FLNB p.Thr1198=
c.3594G>A · rs143566075 · VCV499767
Conflicting classifications of pathogenicity
Conflicting submitters
Classification
Conflicting classifications of pathogenicity
ClinVar
Review
Conflicting submitters ★☆☆☆
ClinVar · 7 submitters
gnomAD v4.1
Rare
rare (popmax 0.432%, mid)
Conditions
1
FLNB-related 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 -20 | GERP -5.4 |
| Overall | ||
| CADD | 0.061 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.432%
Middle Eastern · 26/6,024 alleles
Filtering AF
0.302%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.259%
Overall
0.0324%
521/1,608,388 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 0.432% | 232 |
| Ashkenazi Jewishnot grpmax-eligible | 0.0781% | 1,280 |
| Remaining individualsnot grpmax-eligible | 0.0674% | 1,483 |
| Admixed American | 0.0457% | 2,186 |
| European (non-Finnish) | 0.0317% | 3,158 |
| African / African-American | 0.0254% | 3,930 |
| South Asian | 0.00998% | 10,018 |
| East Asian | 0.00446% | 22,417 |
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.Thr1198=
- Coding
- c.3594G>A
- MANE Select
- NM_001457
- dbSNP
- rs143566075
- Type
- single nucleotide variant
- Location
- chr3:58123560 (GRCh38)
- Gene constraint
- LOEUF 0.504 · pLI <0.01 · ClinGen HI 0/3 (gnomAD)
- Structure
- AlphaFold pLDDT 76.96 · 23 PDB
- Residue 1198
- the 'interaction with fblp1' region
Similar variants
- FLNB p.Thr1198Met Likely benign ★ ⚠ same residue
- FLNB p.Arg649Ter Pathogenic ★★ same condition
- FLNB p.Glu227Lys Pathogenic ★★ same condition
- FLNB p.Gly168Ser Pathogenic/Likely pathogenic ★★ ⚠ same condition
- FLNB p.Gly1691Ser Pathogenic ★★ ⚠ same condition
- FLNB p.Phe2023Ser Likely pathogenic ★★ same condition
- FLNB p.Tyr1395Ter Pathogenic/Likely pathogenic ★★ same condition
- FLNB p.Arg1438Cys 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/flnb-p-thr1198 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown