ADAMTS1 p.Pro567=
c.1701T>C · rs200740219 · VCV2652576
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0424%, 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 -0.002 | GERP -3.7, phastCons 0.12 |
| Overall | ||
| CADD | 5.855 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0424%
East Asian · 19/44,854 alleles
Filtering AF
0.0277%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.023%
Overall
0.00161%
26/1,613,840 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 0.0424% | 2,361 |
| Remaining individualsnot grpmax-eligible | 0.0112% | 8,928 |
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
- ADAMTS1
- Protein
- p.Pro567=
- Coding
- c.1701T>C
- MANE Select
- NM_006988
- dbSNP
- rs200740219
- Type
- single nucleotide variant
- Location
- chr21:26840026 (GRCh38)
- Gene constraint
- LOEUF 0.329 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 78.30 · 4 PDB
- Residue 567
- the tsp type-1 1 domain
Similar variants
- ADAMTS1 c.1853-10C>G Benign ★★ same type
- ADAMTS1 p.Arg383= Benign ★★ same type
- ADAMTS1 p.Arg486= Benign ★★ same type
- ADAMTS1 p.Arg756Gln Likely benign ★★ ⚠ same type
- ADAMTS1 p.Asp782Gly Likely benign ★★ ⚠ same type
- ADAMTS1 p.Glu631Lys Benign ★★ same type
- ADAMTS1 p.Gly576Ser Likely benign ★★ ⚠ same type
- ADAMTS1 p.Leu161= Benign ★★ 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/adamts1-p-pro567 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown