ADAMTS17 p.Asp23=
c.69C>T · rs567551785 · VCV1552914
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00137%, afr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 1.5 | GERP 0.084, phastCons 1 |
| Overall | ||
| CADD | 6.799 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00137%
African / African-American · 1/73,190 alleles
Overall
0.00131%
2/152,258 alleles · very rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.00137% | 73,190 |
| European (non-Finnish) | 8.71e-05% | 1,147,580 |
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- ADAMTS17
- Protein
- p.Asp23=
- Coding
- c.69C>T
- MANE Select
- NM_139057
- dbSNP
- rs567551785
- Type
- single nucleotide variant
- Location
- chr15:100341831 (GRCh38)
- Gene constraint
- LOEUF 0.966 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 70.06
Similar variants
- ADAMTS17 c.1576-1G>T Likely pathogenic ★★ same type
- ADAMTS17 p.Arg433Ter Pathogenic/Likely pathogenic ★★ same type
- ADAMTS17 p.Arg854Ter Pathogenic/Likely pathogenic ★★ same type
- ADAMTS17 p.Ser971Ter Pathogenic/Likely pathogenic ★★ same type
- ADAMTS17 c.2017-3T>C Uncertain significance ★★ same type
- ADAMTS17 c.2295+3A>G Uncertain significance ★★ same type
- ADAMTS17 c.79+3A>C Uncertain significance ★★ same type
- ADAMTS17 c.-69C>T 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/adamts17-p-asp23 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown