ADAMTS18 p.Gln982=
c.2946G>A · rs776507473 · VCV1559894
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0242%, 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 0.5 | GERP -2.3, phastCons 1 |
| Overall | ||
| CADD | 6.63 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0242%
South Asian · 22/91,080 alleles
Filtering AF
0.0163%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0137%
Overall
0.00167%
27/1,614,012 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 0.0242% | 4,140 |
| Remaining individualsnot grpmax-eligible | 0.0064% | 15,620 |
| African / African-American | 0.00133% | 74,920 |
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.Gln982=
- Coding
- c.2946G>A
- MANE Select
- NM_199355
- dbSNP
- rs776507473
- Type
- single nucleotide variant
- Location
- chr16:77294983 (GRCh38)
- Gene constraint
- LOEUF 1.055 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 73.83
- Residue 982
- the tsp type-1 2 domain
Similar variants
- 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
- ADAMTS18 p.Arg88Ter 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-gln982 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown