ADRM1 p.Asp266=
c.798C>T · rs139296980 · VCV777607
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
rare (popmax 0.385%, afr)
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 1.1 | GERP 1.6, phastCons 1 |
| Overall | ||
| CADD | 7.642 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.385%
African / African-American · 289/75,042 alleles
Filtering AF
0.349%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.334%
Overall
0.0307%
495/1,611,772 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.385% | 260 |
| Ashkenazi Jewishnot grpmax-eligible | 0.186% | 538 |
| Admixed American | 0.112% | 895 |
| Remaining individualsnot grpmax-eligible | 0.0561% | 1,783 |
| Middle Eastern | 0.033% | 3,028 |
| European (non-Finnish) | 0.0039% | 25,647 |
| South Asian | 0.0011% | 91,016 |
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.Asp266=
- Coding
- c.798C>T
- MANE Select
- NM_007002
- dbSNP
- rs139296980
- Type
- single nucleotide variant
- Location
- chr20:62307770 (GRCh38)
- Gene constraint
- LOEUF 0.188 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 64.34 · 21 PDB
- Residue 266
- an α-helix; the 'interaction with uchl5' region
Similar variants
- ADRM1 p.Ala245= Benign ★★ same type
- ADRM1 p.Ala324Val Benign ★★ same type
- ADRM1 p.Pro315= 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-asp266 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown