COMP p.Asp385del
c.1153_1155del · rs2145901379 · VCV1510817
Likely pathogenic
Multiple submitters
Classification
Likely pathogenic
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Not reported
no gnomAD frequency available for this variant
Conditions
1
COMP-related disorder
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 7.8 | GERP 2, phastCons 1 |
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
- COMP
- Protein
- p.Asp385del
- Coding
- c.1153_1155del
- MANE Select
- NM_000095
- dbSNP
- rs2145901379
- Type
- Deletion
- Location
- chr19:18786631 (GRCh38)
- Gene constraint
- LOEUF 1.073 · pLI <0.01 · ClinGen HI 0/3 (gnomAD)
- Structure
- AlphaFold pLDDT 88.60 · 1 PDB
- Residue 385
- the 'disordered' region; a UniProt-annotated variant site (in edm1; atypical form); a UniProt-annotated variant site (in edm1)
Disease context
COMP-related disorder
Similar variants
- COMP p.Asp385Asn Pathogenic/Likely pathogenic ★★ same residue
- COMP p.Glu341_Asp342del Pathogenic/Likely pathogenic ★★ same condition
- COMP p.Asp385His Likely pathogenic ★ same residue
- COMP p.Asp385Tyr Pathogenic ★ same residue
- COMP p.Asn489Lys Pathogenic/Likely pathogenic ★★ same condition
- COMP p.Asp326Asn Pathogenic/Likely pathogenic ★★ same condition
- COMP p.Asp401Asn Pathogenic ★★ same condition
- COMP p.Asp458Gly Pathogenic/Likely 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/comp-p-asp385del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown