ADAMTS9 p.Ser210=
c.630C>T · VCV4232218
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00801%, 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 0.73 | GERP -1.2, phastCons 0.01 |
| Overall | ||
| CADD | 7.15 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00801%
African / African-American · 6/74,870 alleles
Filtering AF
0.00375%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00337%
Overall
0.00421%
68/1,613,748 alleles · very rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.00801% | 12,478 |
| East Asian | 0.00669% | 14,957 |
| European (non-Finnish) | 0.00475% | 21,070 |
| Admixed American | 0.00167% | 59,980 |
| Remaining individualsnot grpmax-eligible | 0.0016% | 62,472 |
| Finnishnot grpmax-eligible | 0.00156% | 64,034 |
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
- ADAMTS9
- Protein
- p.Ser210=
- Coding
- c.630C>T
- MANE Select
- NM_182920
- Type
- single nucleotide variant
- Location
- chr3:64681250 (GRCh38)
- Gene constraint
- LOEUF 0.469 · pLI 0.87 (gnomAD)
- Structure
- AlphaFold pLDDT 69.47
- Residue 210
- the 'disordered' region
Similar variants
- ADAMTS9 p.Ala1505Thr Uncertain significance ★★ ⚠ same type
- ADAMTS9 p.Ala737Thr Uncertain significance ★★ ⚠ same type
- ADAMTS9 p.Arg1175Ser Uncertain significance ★★ ⚠ same type
- ADAMTS9 p.Arg1604Cys Uncertain significance ★★ ⚠ same type
- ADAMTS9 p.Arg1724Gln Uncertain significance ★★ ⚠ same type
- ADAMTS9 p.Arg480Gln Uncertain significance ★★ ⚠ same type
- ADAMTS9 p.Arg920Trp Uncertain significance ★★ ⚠ same type
- ADAMTS9 p.Arg956His 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/adamts9-p-ser210 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown