FLNC p.Val1773fs
c.5316_5554del239 · VCV4812504
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
3
hypertrophic cardiomyopathy 26
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 32 of 48 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 5.9 | phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- FLNC
- Protein
- p.Val1773fs
- Coding
- c.5316_5554del239
- MANE Select
- NM_001458
- Type
- Deletion
- Location
- chr7:128850397 (GRCh38)
- Gene constraint
- LOEUF 0.424 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
Similar variants
- FLNC c.2390-10_2406del Pathogenic ★★ same condition
- FLNC c.2929+2_2929+7del Likely pathogenic ★★ same condition
- FLNC p.Ala1902fs Pathogenic ★★ same condition
- FLNC p.Ala260fs Pathogenic ★★ same condition
- FLNC p.Ala656fs Pathogenic/Likely pathogenic ★★ same condition
- FLNC p.Arg1352fs Pathogenic/Likely pathogenic ★★ same condition
- FLNC p.Arg1354fs Pathogenic ★★ same condition
- FLNC p.Arg695fs Pathogenic ★★ 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/flnc-p-val1773fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown