ADAMTS17 p.Pro910=
c.2730G>A · rs138772164 · VCV741273
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.234%, 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 -8.9 | GERP -3.1 |
| Overall | ||
| CADD | 1.313 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.234%
African / African-American · 176/75,062 alleles
Filtering AF
0.206%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.195%
Overall
0.0135%
218/1,613,584 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.234% | 426 |
| Admixed American | 0.0183% | 5,456 |
| Middle Eastern | 0.0165% | 6,060 |
| Remaining individualsnot grpmax-eligible | 0.016% | 6,250 |
| South Asian | 0.00879% | 11,382 |
| East Asian | 0.00223% | 44,868 |
| European (non-Finnish) | 0.000932% | 107,270 |
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.Pro910=
- Coding
- c.2730G>A
- MANE Select
- NM_139057
- dbSNP
- rs138772164
- Type
- single nucleotide variant
- Location
- chr15:99997451 (GRCh38)
- Gene constraint
- LOEUF 0.966 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 70.06
- Residue 910
- a disulfide bond; the tsp type-1 3 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-pro910 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown