ADAMTSL4 p.Arg771=
c.2313G>A · rs1340632867 · VCV1994710
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0512%, 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 2.2 | GERP -1.2, phastCons 1 |
| Overall | ||
| CADD | 8.356 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0512%
East Asian · 23/44,900 alleles
Filtering AF
0.035%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0296%
Overall
0.00149%
24/1,613,106 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 0.0512% | 1,952 |
| South Asian | 0.0011% | 91,090 |
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
- ADAMTSL4
- Protein
- p.Arg771=
- Coding
- c.2313G>A
- MANE Select
- NM_019032
- dbSNP
- rs1340632867
- Type
- single nucleotide variant
- Location
- chr1:150558080 (GRCh38)
- Gene constraint
- LOEUF 0.92 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 65.18
- Residue 771
- the tsp type-1 2 domain
Similar variants
- ADAMTSL4 p.Arg771Gln Uncertain significance ★★ ⚠ same residue
- ADAMTSL4 p.Arg771Trp Conflicting classifications of pathogenicity ★ ⚠ same residue
- ADAMTSL4 c.2178-2A>G Likely pathogenic ★★ same type
- ADAMTSL4 p.Arg1007Ter Pathogenic/Likely pathogenic ★★ same type
- ADAMTSL4 p.Arg126Ter Pathogenic/Likely pathogenic ★★ same type
- ADAMTSL4 p.Arg141Ter Pathogenic ★★ same type
- ADAMTSL4 p.Arg309Ter Pathogenic ★★ same type
- ADAMTSL4 p.Arg670Ter 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/adamtsl4-p-arg771 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown