ADAMTS18 p.Cys38=
c.114C>T · rs758722794 · VCV1668689
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00811%, sas)
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 3.5 | GERP 0.065, phastCons 1 |
| Overall | ||
| CADD | 13.48 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00811%
South Asian · 7/86,298 alleles
Filtering AF
0.00376%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00266%
Overall
0.000636%
9/1,415,334 alleles · very rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 0.00811% | 12,328 |
| Remaining individualsnot grpmax-eligible | 0.00164% | 61,018 |
| European (non-Finnish) | 8.61e-05% | 1,161,152 |
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
- ADAMTS18
- Protein
- p.Cys38=
- Coding
- c.114C>T
- MANE Select
- NM_199355
- dbSNP
- rs758722794
- Type
- single nucleotide variant
- Location
- chr16:77434482 (GRCh38)
- Gene constraint
- LOEUF 1.055 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 73.83
Similar variants
- ADAMTS18 p.Cys38Tyr Uncertain significance ★★ ⚠ same residue
- ADAMTS18 c.3006+1G>A Pathogenic/Likely pathogenic ★★ same type
- ADAMTS18 c.3007-1G>C Likely pathogenic ★★ same type
- ADAMTS18 p.Arg1009Ter Pathogenic/Likely pathogenic ★★ same type
- ADAMTS18 p.Arg1094Ter Pathogenic/Likely pathogenic ★★ same type
- ADAMTS18 p.Arg172Ter Pathogenic/Likely pathogenic ★★ same type
- ADAMTS18 p.Arg418Ter Pathogenic/Likely pathogenic ★★ same type
- ADAMTS18 p.Arg548Ter Pathogenic/Likely pathogenic ★★ 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/adamts18-p-cys38 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown