ADAM15 p.Arg736=
c.2206A>C · rs139427980 · VCV3144183
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
rare (popmax 0.256%, afr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.14 | moderately benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | <0.2 | all four deltas below 0.2 · A>G here scores Δ0.38 · evaluated, not missing |
| Constraint at this position | ||
| Conservation | phyloP 9.3 | GERP 1.8, phastCons 1 |
| Overall | ||
| CADD | 18.44 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.256%
African / African-American · 192/74,880 alleles
Filtering AF
0.227%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.215%
Overall
0.0133%
215/1,613,562 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.256% | 390 |
| Admixed American | 0.0233% | 4,284 |
| Remaining individualsnot grpmax-eligible | 0.0144% | 6,940 |
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
- ADAM15
- Protein
- p.Arg736=
- Coding
- c.2206A>C
- MANE Select
- NM_207197
- dbSNP
- rs139427980
- Type
- single nucleotide variant
- Location
- chr1:155060342 (GRCh38)
- Gene constraint
- LOEUF 0.826 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 73.35
- Residue 736
- the 'disordered' region
Similar variants
- ADAM15 c.1918-6G>T Benign ★★ same type
- ADAM15 p.Arg268His Likely benign ★★ ⚠ same type
- ADAM15 p.Leu240Met Benign ★★ same type
- ADAM15 p.Ala221Asp Uncertain significance ★ ⚠ same type
- ADAM15 p.Ala301Val Uncertain significance ★ ⚠ same type
- ADAM15 p.Ala343Thr Uncertain significance ★ ⚠ same type
- ADAM15 p.Ala347Ser Uncertain significance ★ ⚠ same type
- ADAM15 p.Ala39Thr 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/adam15-p-arg736 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown