ADAMTS15 p.Ser760=
c.2280C>T · rs61753091 · VCV708570
Benign/Likely benign
Multiple submitters
Classification
Benign/Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 3 submitters
gnomAD v4.1
Rare
low-frequency (popmax 2.82%, mid)
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 -13 | GERP -3.9 |
| Overall | ||
| CADD | 1.048 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
2.82%
Middle Eastern · 171/6,062 alleles
Filtering AF
2.48%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 2.34%
Overall
0.545%
8,802/1,613,620 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 2.82% | 35 |
| Amishnot grpmax-eligible | 0.768% | 130 |
| Admixed American | 0.703% | 142 |
| European (non-Finnish) | 0.609% | 164 |
| Remaining individualsnot grpmax-eligible | 0.6% | 167 |
| Ashkenazi Jewishnot grpmax-eligible | 0.527% | 190 |
| South Asian | 0.314% | 318 |
| African / African-American | 0.217% | 461 |
| Finnishnot grpmax-eligible | 0.0567% | 1,763 |
| East Asian | 0.00223% | 44,882 |
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
- ADAMTS15
- Protein
- p.Ser760=
- Coding
- c.2280C>T
- MANE Select
- NM_139055
- dbSNP
- rs61753091
- Type
- single nucleotide variant
- Location
- chr11:130473248 (GRCh38)
- Gene constraint
- LOEUF 0.599 · pLI 0.03 (gnomAD)
- Structure
- AlphaFold pLDDT 77.87
- Residue 760
- a UniProt-annotated variant site (in da12; likely pathogenic); the 'spacer' region
Similar variants
- ADAMTS15 p.Gly235Ser Benign ★★ ⚠ same type
- ADAMTS15 p.Ile720= Benign ★★ same type
- ADAMTS15 p.Leu947= Benign ★★ same type
- ADAMTS15 p.Pro835= Benign ★★ same type
- ADAMTS15 c.1903-2A>C Likely pathogenic ★ same type
- ADAMTS15 p.Cys905Trp Likely pathogenic ★ same type
- ADAMTS15 p.Ala183Thr Uncertain significance ★ ⚠ same type
- ADAMTS15 p.Ala196Gly 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/adamts15-p-ser760 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown