FLNB c.*367A>C
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.669%, eas)
Conditions
1
FLNB-Related Spectrum Disorders
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 1.5 | GERP -2.8, phastCons 0.051 |
| Non-coding constraint | Z 5.48 | 1 kb window · o/e 0.66 · regional · uncalibrated |
| Overall | ||
| CADD | 3.817 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.669%
East Asian · 67/10,020 alleles
Filtering AF
0.54%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.493%
Overall
0.0328%
84/255,950 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 0.669% | 150 |
| South Asian | 0.0684% | 1,461 |
| Remaining individualsnot grpmax-eligible | 0.0262% | 3,820 |
| European (non-Finnish) | 0.00152% | 65,998 |
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
- Coding
- c.*367A>C
- MANE Select
- NM_001457
- dbSNP
- rs144165782
- Type
- single nucleotide variant
- Location
- chr3:58171129 (GRCh38)
- Gene constraint
- LOEUF 0.504 · pLI <0.01 · ClinGen HI 0/3 (gnomAD)
- Structure
- AlphaFold pLDDT 76.96 · 23 PDB
Disease context
FLNB-Related Spectrum Disorders
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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-c-star-367a-c (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown