ACAN p.Glu577fs
c.1729dup · VCV4822781
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 in a LoF-intolerant gene |
|---|---|---|
| NMD | predicted | premature termination codon in exon 9 of 19 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP -8.2 | GERP -3.8 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- ACAN
- Protein
- p.Glu577fs
- Coding
- c.1729dup
- MANE Select
- NM_001369268
- Type
- Duplication
- Location
- chr15:88848034 (GRCh38)
- Gene constraint
- LOEUF 0.377 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 53.32 · 4 PDB
Similar variants
- ACAN p.Gly366_Glu367insTer Pathogenic ★★ same type
- ACAN p.Ala2277fs Likely pathogenic ★ same type
- ACAN p.Ala2449fs Pathogenic ★ same type
- ACAN p.Arg668fs Pathogenic ★ same type
- ACAN p.Asp953fs Likely pathogenic ★ same type
- ACAN p.Gly554fs Likely pathogenic ★ same type
- ACAN p.Ile398fs Likely pathogenic ★ same type
- ACAN p.Ser802fs Likely 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/acan-p-glu577fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown