FLNA c.2828del
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Not reported
no gnomAD frequency available for this variant
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -0.61 | GERP -3.4 |
| Non-coding constraint | — | not assessed · autosomes only, so chrX has no window · absence ≠ unconstrained |
Population frequency
dbSNP / gnomAD
No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.
Variant & gene context
- Gene
- FLNA
- Coding
- c.2828del
- MANE Select
- NM_001110556 · reported on NM_001456
- dbSNP
- rs1057518626
- Type
- Deletion
- Location
- chrX:154361786 (GRCh38)
- Structure
- AlphaFold pLDDT 77.37 · 26 PDB
Similar variants
- FLNA c.4750_4755+18del Pathogenic/Likely pathogenic ★★ same type
- FLNA p.Arg674fs Pathogenic ★★ same type
- FLNA p.Gln378fs Pathogenic/Likely pathogenic ★★ same type
- FLNA p.Glu1977fs Pathogenic ★★ same type
- FLNA p.Leu2082fs Pathogenic ★★ same type
- FLNA p.Ter2648SerextTer? Pathogenic/Likely pathogenic ★★ same type
- FLNA p.Val1721fs Pathogenic ★★ same type
- FLNA p.Val2212fs 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-c-2828del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown