FLNC p.Val586fs
c.1756del · rs2536627255 · VCV2565509
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 11 of 48 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 7 | phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Population frequency
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
- FLNC
- Protein
- p.Val586fs
- Coding
- c.1756del
- MANE Select
- NM_001458
- dbSNP
- rs2536627255
- Type
- Deletion
- Location
- chr7:128840912 (GRCh38)
- Gene constraint
- LOEUF 0.424 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
Similar variants
- FLNC p.Val586= Likely benign ★★ same residue
- FLNC c.2390-10_2406del Pathogenic ★★ same condition
- FLNC p.Ala656fs Pathogenic/Likely pathogenic ★★ same condition
- FLNC p.Arg1354fs Pathogenic ★★ same condition
- FLNC p.Asn721fs Pathogenic ★★ same condition
- FLNC p.Gln224fs Pathogenic ★★ same condition
- FLNC p.Gly1649fs Pathogenic ★★ same condition
- FLNC p.Ile178fs 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-val586fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown