FLNB p.Gly1237fs
c.3710del · VCV3655568
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function |
|---|---|---|
| NMD | predicted | premature termination codon in exon 21 of 46 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP -1.4 | GERP -4.8 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- FLNB
- Protein
- p.Gly1237fs
- Coding
- c.3710del
- MANE Select
- NM_001457
- Type
- Deletion
- Location
- chr3:58123675 (GRCh38)
- Gene constraint
- LOEUF 0.504 · pLI <0.01 · ClinGen HI 0/3 (gnomAD)
- Structure
- AlphaFold pLDDT 76.96 · 23 PDB
- Residue 1237
- an α-helix; the 'interaction with fblp1' region
Similar variants
- FLNB p.Glu1000fs Likely pathogenic ★★ same type
- FLNB p.Glu1792del Likely pathogenic ★★ same type
- FLNB c.2056-15_2056-10del Uncertain significance ★★ same type
- FLNB c.2055+274del Benign ★★ same type
- FLNB c.3724+13_3724+15del Likely benign ★★ same type
- FLNB c.3724+35_3724+36del Benign/Likely benign ★★ same type
- FLNB c.3724+36del Benign/Likely benign ★★ same type
- FLNB c.1346-1358_1941+403del 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-gly1237fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown