ADAMTS17 p.Ser429=
c.1287C>T · rs143803389 · VCV2056031
Benign/Likely benign
Multiple submitters
Classification
Benign/Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
rare (popmax 0.247%, eas)
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 -0.72 | GERP 0.75 |
| Overall | ||
| CADD | 5.019 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.247%
East Asian · 111/44,882 alleles
Filtering AF
0.21%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.196%
Overall
0.007%
113/1,614,202 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 0.247% | 404 |
| Admixed American | 0.00167% | 60,024 |
| South Asian | 0.0011% | 91,080 |
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.Ser429=
- Coding
- c.1287C>T
- MANE Select
- NM_139057
- dbSNP
- rs143803389
- Type
- single nucleotide variant
- Location
- chr15:100155215 (GRCh38)
- Gene constraint
- LOEUF 0.966 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 70.06
- Residue 429
- a disulfide bond; the peptidase m12b domain
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-ser429 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown