FLNB p.Tyr1815=
c.5445C>T · rs755702006 · VCV196862
Benign/Likely benign
Multiple submitters
Classification
Benign/Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 4 submitters
gnomAD v4.1
Rare
rare (popmax 0.418%, amr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | all four deltas below 0.2 · C>G here scores Δ0.44 · evaluated, not missing |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -3.4 | GERP -4.8 |
| Overall | ||
| CADD | 12.39 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.418%
Admixed American · 251/60,000 alleles
Filtering AF
0.376%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.359%
Overall
0.0177%
286/1,614,092 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.418% | 239 |
| East Asian | 0.00668% | 14,968 |
| Remaining individualsnot grpmax-eligible | 0.0064% | 15,621 |
| South Asian | 0.00329% | 30,365 |
| European (non-Finnish) | 0.00195% | 51,307 |
| Finnishnot grpmax-eligible | 0.00156% | 64,032 |
| African / African-American | 0.00133% | 74,928 |
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.Tyr1815=
- Coding
- c.5445C>T
- MANE Select
- NM_001457
- dbSNP
- rs755702006
- Type
- single nucleotide variant
- Location
- chr3:58145940 (GRCh38)
- Gene constraint
- LOEUF 0.504 · pLI <0.01 · ClinGen HI 0/3 (gnomAD)
- Structure
- AlphaFold pLDDT 76.96 · 23 PDB
- Residue 1815
- a β-strand
Similar variants
- FLNB p.Tyr1815Phe 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
- FLNB p.Glu227Lys 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-tyr1815 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown