Is ACAN p.Asp629fs (c.1880_1883dup) pathogenic?

ACAN p.Asp629fs (c.18801883dup) is classified Pathogenic in ACAN (ClinVar, No assertion criteria, 1 submitter; last evaluated 2019-05-31). Absent from gnomAD; Associated with osteochondritis dissecans.

What condition is associated with ACAN p.Asp629fs (c.1880_1883dup)?

ACAN p.Asp629fs (c.1880_1883dup) is associated with osteochondritis dissecans (ClinVar).

How common is ACAN p.Asp629fs (c.1880_1883dup) in the general population?

ACAN p.Asp629fs (c.1880_1883dup) is absent from gnomAD (gnomAD).

How is Osteochondritis dissecans inherited?

Typically Not applicable (Orphanet). A genetic counselor can assess individual risk for a family.

ACAN p.Asp629fs

c.1880_1883dup · rs1896883106 · VCV997994

Pathogenic No assertion criteria

Classification

Pathogenic

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

osteochondritis dissecans

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 10 of 19
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP -20	GERP -3.8

Predicted loss-of-function is descriptive, not an applied PVS1 code.

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: ACAN
Protein: p.Asp629fs
Coding: c.1880_1883dup
MANE Select: NM_001369268
dbSNP: rs1896883106
Type: Microsatellite
Location: chr15:88849577 (GRCh38)
Gene constraint: LOEUF 0.377 · pLI 1.00 (gnomAD)
Structure: AlphaFold pLDDT 53.32 · 4 PDB
Residue 629: a disulfide bond; the 'g2-b'' region; the link 4 domain

Full ACAN gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

osteochondritis dissecans — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Osteochondritis dissecans (Orphanet):

Inheritance: Not applicable
Onset: All ages
Prevalence: 1-5 / 10 000 (Europe)

Similar variants

ACAN p.Asp629= Likely benign ★★ same residue
ACAN p.Asp206delinsGlyTer Likely pathogenic ★ same condition
ACAN p.Asp629Asn Uncertain significance ★ ⚠ same residue
ACAN p.Glu518fs Pathogenic ★★ same condition
ACAN p.Tyr164Ter Pathogenic ★★ same condition
ACAN p.Arg2503Trp Uncertain significance ★★ ⚠ same condition
ACAN p.Arg483Cys Uncertain significance ★★ ⚠ same condition
ACAN p.Asp339Asn Uncertain significance ★★ ⚠ 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/acan-p-asp629fs (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown