ADRM1 p.Pro315=
c.945A>G · rs115973129 · VCV787497
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 1.26%, afr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | no splice effect predicted · four deltas, not one · how we know |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -2.3 | GERP -2.1 |
| Overall | ||
| CADD | 7.407 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
1.26%
African / African-American · 945/75,044 alleles
Filtering AF
1.19%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.17%
Overall
0.0631%
1,016/1,611,298 alleles · low-frequency
exomes 459/1,458,996 · genomes 557/152,302 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 1.26% | 79 |
| Remaining individualsnot grpmax-eligible | 0.0576% | 1,735 |
| Admixed American | 0.0483% | 2,069 |
| European (non-Finnish) | 0.000509% | 196,643 |
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
- ADRM1
- Protein
- p.Pro315=
- Coding
- c.945A>G
- MANE Select
- NM_007002
- dbSNP
- rs115973129
- Type
- single nucleotide variant
- Location
- chr20:62308109 (GRCh38)
- Gene constraint
- LOEUF 0.188 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 64.34 · 21 PDB
- Residue 315
- the deubad domain; the 'interaction with uchl5' region
Similar variants
- ADRM1 p.Ala245= Benign ★★ same type
- ADRM1 p.Ala324Val Benign ★★ same type
- ADRM1 p.Asp266= Benign ★★ same type
- ADRM1 p.Ala149Gly Uncertain significance ★ ⚠ same type
- ADRM1 p.Ala236Thr Uncertain significance ★ ⚠ same type
- ADRM1 p.Ala239Thr Uncertain significance ★ ⚠ same type
- ADRM1 p.Ala245Thr Uncertain significance ★ ⚠ same type
- ADRM1 p.Ala278Val 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/adrm1-p-pro315 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown