ACAN p.Pro748fs
c.2243del · VCV3689709
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 11 of 19 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 3.5 | GERP -0.78, phastCons 0.44 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- ACAN
- Protein
- p.Pro748fs
- Coding
- c.2243del
- MANE Select
- NM_001369268
- Type
- Deletion
- Location
- chr15:88852007 (GRCh38)
- Gene constraint
- LOEUF 0.377 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 53.32 · 4 PDB
- Residue 748
- the 'ks' region; the 'disordered' region
Similar variants
- ACAN p.Asn108fs Pathogenic/Likely pathogenic ★★ same type
- ACAN p.Glu518fs Pathogenic ★★ same type
- ACAN p.Gly391fs Pathogenic ★★ same type
- ACAN p.Ser410fs Pathogenic ★★ same type
- ACAN p.Ser509fs Pathogenic ★★ same type
- ACAN p.Thr259fs Pathogenic/Likely pathogenic ★★ same type
- ACAN p.Trp290fs Pathogenic ★★ same type
- ACAN p.Gly946_Glu964del Uncertain significance ★★ 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-pro748fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown