FLNA p.Ser256fs
c.767_768del · VCV4871758
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
epilepsy
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function in a haploinsufficient gene (ClinGen) |
|---|---|---|
| NMD | predicted | premature termination codon in exon 5 of 48 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 7.7 | GERP 1.8, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- FLNA
- Protein
- p.Ser256fs
- Coding
- c.767_768del
- MANE Select
- NM_001110556
- Type
- Microsatellite
- Location
- chrX:154367497 (GRCh38)
- Structure
- AlphaFold pLDDT 77.37 · 26 PDB
- Residue 256
- an α-helix; the 'actin-binding' region; the calponin-homology (ch) 2 domain
Similar variants
- FLNA p.Ser256= Benign/Likely benign ★★ same residue
- FLNA p.Val2212fs Pathogenic ★★ same condition
- FLNA p.Cys1165Ter Pathogenic ★ same condition
- FLNA p.1680GK[1] Likely pathogenic ★★ same type
- FLNA p.Glu2142fs Likely pathogenic ★★ same type
- FLNA p.Lys88del Pathogenic ★★ same type
- FLNA p.Ser343fs Pathogenic/Likely pathogenic ★★ same type
- FLNA p.Val2132fs 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/flna-p-ser256fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown