ADAMTS2 p.Pro822fs
c.2465del · VCV4815614
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
Ehlers-Danlos syndrome, dermatosparaxis type
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function |
|---|---|---|
| NMD | predicted | premature termination codon in exon 17 of 22 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP -20 | GERP -2.9 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- ADAMTS2
- Protein
- p.Pro822fs
- Coding
- c.2465del
- MANE Select
- NM_014244
- Type
- Deletion
- Location
- chr5:179128111 (GRCh38)
- Gene constraint
- LOEUF 0.568 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 71.59
- Residue 822
- the 'spacer' region
Disease context
Ehlers-Danlos syndrome, dermatosparaxis type — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor Dermatosparaxis Ehlers-Danlos syndrome (Orphanet):
- Inheritance
- Autosomal recessive
- Onset
- Infancy, Neonatal
Similar variants
- ADAMTS2 p.Pro822Leu Uncertain significance ★★ ⚠ same residue
- ADAMTS2 p.Pro822= Likely benign ★ same residue
- ADAMTS2 c.689-9_695del Likely pathogenic ★★ same condition
- ADAMTS2 p.Ala89fs Pathogenic/Likely pathogenic ★★ same condition
- ADAMTS2 p.Met791fs Pathogenic/Likely pathogenic ★★ same condition
- ADAMTS2 p.Pro33fs Pathogenic/Likely pathogenic ★★ same condition
- ADAMTS2 p.Pro34fs Pathogenic/Likely pathogenic ★★ same condition
- ADAMTS2 p.Pro46fs 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/adamts2-p-pro822fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown