ADAMTS10 p.Pro201=
c.603G>A · rs782414250 · VCV779181
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.005%, amr)
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 -20 | GERP -3.4 |
| Overall | ||
| CADD | 0.393 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.005%
Admixed American · 3/60,020 alleles
Filtering AF
0.00138%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00116%
Overall
0.00205%
30/1,461,280 alleles · very rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.005% | 20,007 |
| Ashkenazi Jewishnot grpmax-eligible | 0.00338% | 29,608 |
| East Asian | 0.00223% | 44,874 |
| European (non-Finnish) | 0.00203% | 49,168 |
| Remaining individualsnot grpmax-eligible | 0.0016% | 62,492 |
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
- ADAMTS10
- Protein
- p.Pro201=
- Coding
- c.603G>A
- MANE Select
- NM_030957
- dbSNP
- rs782414250
- Type
- single nucleotide variant
- Location
- chr19:8601135 (GRCh38)
- Gene constraint
- LOEUF 0.467 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 73.88
Similar variants
- ADAMTS10 p.Pro201Arg Uncertain significance ★ ⚠ same residue
- ADAMTS10 p.Pro201Leu Uncertain significance ★ ⚠ same residue
- ADAMTS10 p.Pro201Ser Uncertain significance ★ ⚠ same residue
- ADAMTS10 c.810+1G>A Likely pathogenic ★★ same type
- ADAMTS10 p.Arg237Ter Pathogenic ★★ same type
- ADAMTS10 c.1337+3G>T Uncertain significance ★★ same type
- ADAMTS10 c.1587+6C>A Uncertain significance ★★ same type
- ADAMTS10 c.894+5G>A 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/adamts10-p-pro201 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown