ADAMTS7 p.Pro568=
c.1704T>C · rs55814083 · VCV719774
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 2.27%, 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 -2 | GERP -3.4 |
| Overall | ||
| CADD | 0.349 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
2.27%
African / African-American · 1,701/74,946 alleles
Filtering AF
2.18%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 2.14%
Overall
0.115%
1,845/1,609,648 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 2.27% | 44 |
| Remaining individualsnot grpmax-eligible | 0.0981% | 1,020 |
| Admixed American | 0.0936% | 1,068 |
| Middle Eastern | 0.0677% | 1,478 |
| South Asian | 0.0022% | 45,444 |
| European (non-Finnish) | 0.00187% | 53,579 |
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
- ADAMTS7
- Protein
- p.Pro568=
- Coding
- c.1704T>C
- MANE Select
- NM_014272
- dbSNP
- rs55814083
- Type
- single nucleotide variant
- Location
- chr15:78776190 (GRCh38)
- Gene constraint
- LOEUF 0.761 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 64.26
- Residue 568
- a disulfide bond; the tsp type-1 1 domain
Similar variants
- ADAMTS7 p.Arg218His Likely benign ★★ ⚠ same type
- ADAMTS7 p.Cys1553= Benign/Likely benign ★★ same type
- ADAMTS7 p.Ser237= Likely benign ★★ same type
- ADAMTS7 p.Thr307Met Benign ★★ ⚠ same type
- ADAMTS7 p.Ala1019Thr Uncertain significance ★ ⚠ same type
- ADAMTS7 p.Ala1049Thr Uncertain significance ★ ⚠ same type
- ADAMTS7 p.Ala1166Thr Uncertain significance ★ ⚠ same type
- ADAMTS7 p.Ala11Glu 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/adamts7-p-pro568 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown