ADAMTS10 p.Arg372=
c.1116C>G · rs545679370 · VCV1624058
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0334%, 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 -9.5 | GERP -4.1 |
| Overall | ||
| CADD | 0.454 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0334%
East Asian · 15/44,862 alleles
Filtering AF
0.0206%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0166%
Overall
0.000992%
16/1,613,120 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 0.0334% | 2,991 |
| European (non-Finnish) | 8.48e-05% | 1,179,848 |
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.Arg372=
- Coding
- c.1116C>G
- MANE Select
- NM_030957
- dbSNP
- rs545679370
- Type
- single nucleotide variant
- Location
- chr19:8596381 (GRCh38)
- Gene constraint
- LOEUF 0.467 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 73.88
- Residue 372
- a disulfide bond; the peptidase m12b domain
Similar variants
- ADAMTS10 p.Arg372Cys Uncertain significance ★ ⚠ same residue
- ADAMTS10 p.Arg372His 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
- ADAMTS10 c.-99-3C>T 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-arg372 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown