ADAMTS7 p.Ser237=
c.711G>A · rs369710589 · VCV711075
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
rare (popmax 0.143%, 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 | 0.129 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.143%
Admixed American · 86/60,026 alleles
Filtering AF
0.119%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.11%
Overall
0.0504%
814/1,613,806 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.143% | 698 |
| South Asian | 0.0648% | 1,544 |
| Remaining individualsnot grpmax-eligible | 0.0576% | 1,736 |
| European (non-Finnish) | 0.0529% | 1,891 |
| Middle Eastern | 0.0165% | 6,060 |
| African / African-American | 0.00799% | 12,511 |
| Ashkenazi Jewishnot grpmax-eligible | 0.00338% | 29,606 |
| Finnishnot grpmax-eligible | 0.00157% | 63,682 |
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.Ser237=
- Coding
- c.711G>A
- MANE Select
- NM_014272
- dbSNP
- rs369710589
- Type
- single nucleotide variant
- Location
- chr15:78796698 (GRCh38)
- Gene constraint
- LOEUF 0.761 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 64.26
Similar variants
- ADAMTS7 p.Arg218His Likely benign ★★ same type
- ADAMTS7 p.Cys1553= Benign/Likely benign ★★ same type
- ADAMTS7 p.Pro568= 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-ser237 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown