ADAMTS17 p.Pro72=
c.216G>C · rs1448336277 · VCV2051285
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Not reported
no allele count reported in gnomAD v4.1 (AN 1,250,962)
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 0.009 | GERP -0.5, phastCons 0.001 |
| Overall | ||
| CADD | 9.73 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
No allele count reported in gnomAD v4.1 (AN 1,250,962). This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.
Variant & gene context
- Gene
- ADAMTS17
- Protein
- p.Pro72=
- Coding
- c.216G>C
- MANE Select
- NM_139057
- dbSNP
- rs1448336277
- Type
- single nucleotide variant
- Location
- chr15:100341273 (GRCh38)
- Gene constraint
- LOEUF 0.966 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 70.06
- Residue 72
- the 'disordered' region
Similar variants
- ADAMTS17 p.Pro72Thr Uncertain significance ★★ ⚠ same residue
- ADAMTS17 p.Pro72Ala Conflicting classifications of pathogenicity ★ ⚠ same residue
- ADAMTS17 p.Pro72Arg 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
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-pro72 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown