ADAMTS17 p.Pro45=
c.135C>G · rs958960649 · VCV2168967
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0192%, 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 -11 | GERP -3 |
| Overall | ||
| CADD | 2.419 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0192%
East Asian · 2/10,392 alleles
Filtering AF
0.00337%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00139%
Overall
0.000883%
9/1,018,728 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 0.0192% | 5,196 |
| African / African-American | 0.00695% | 14,388 |
| European (non-Finnish) | 0.000351% | 284,607 |
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.Pro45=
- Coding
- c.135C>G
- MANE Select
- NM_139057
- dbSNP
- rs958960649
- Type
- single nucleotide variant
- Location
- chr15:100341354 (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 p.Pro45Ser Uncertain significance ★★ ⚠ same residue
- 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
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-pro45 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown