FLNB p.Ser1172=
c.3516G>A · rs777664193 · VCV2908291
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 3 submitters
gnomAD v4.1
Rare
very rare (popmax 0.00442%, sas)
Conditions
1
Inborn genetic diseases
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 -12 | GERP -5.4 |
| Overall | ||
| CADD | 0.033 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00442%
South Asian · 4/90,462 alleles
Filtering AF
0.00143%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.000976%
Overall
0.00162%
26/1,604,218 alleles · very rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 0.00442% | 22,615 |
| European (non-Finnish) | 0.00179% | 55,902 |
| Finnishnot grpmax-eligible | 0.00157% | 63,592 |
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.Ser1172=
- Coding
- c.3516G>A
- MANE Select
- NM_001457
- dbSNP
- rs777664193
- Type
- single nucleotide variant
- Location
- chr3:58123482 (GRCh38)
- Gene constraint
- LOEUF 0.504 · pLI <0.01 · ClinGen HI 0/3 (gnomAD)
- Structure
- AlphaFold pLDDT 76.96 · 23 PDB
- Residue 1172
- a β-strand; the 'interaction with fblp1' region
Similar variants
- FLNB p.Ser1172Leu Uncertain significance ★★ ⚠ same residue
- FLNB c.4862-3C>T Uncertain significance ★★ same condition
- FLNB p.Ala1191Thr Uncertain significance ★★ ⚠ same condition
- FLNB p.Ala1191Val Uncertain significance ★★ ⚠ same condition
- FLNB p.Ala1391Thr Uncertain significance ★★ ⚠ same condition
- FLNB p.Ala1427Val Uncertain significance ★★ ⚠ same condition
- FLNB p.Ala1608Val Uncertain significance ★★ ⚠ same condition
- FLNB p.Ala1704Ser 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-ser1172 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown