ADRM1 p.Ala245=
c.735G>A · rs115525800 · VCV777606
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 4.82%, 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 -4.9 | GERP -3.1 |
| Overall | ||
| CADD | 0.478 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
4.82%
African / African-American · 3,616/75,036 alleles
Filtering AF
4.69%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 4.63%
Overall
0.316%
5,100/1,612,068 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 4.82% | 21 |
| Ashkenazi Jewishnot grpmax-eligible | 1.29% | 78 |
| Middle Eastern | 0.561% | 178 |
| Admixed American | 0.528% | 189 |
| Remaining individualsnot grpmax-eligible | 0.511% | 196 |
| European (non-Finnish) | 0.0342% | 2,928 |
| South Asian | 0.0297% | 3,372 |
| Finnishnot grpmax-eligible | 0.00481% | 20,775 |
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.Ala245=
- Coding
- c.735G>A
- MANE Select
- NM_007002
- dbSNP
- rs115525800
- Type
- single nucleotide variant
- Location
- chr20:62307707 (GRCh38)
- Gene constraint
- LOEUF 0.188 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 64.34 · 21 PDB
- Residue 245
- the 'disordered' region
Similar variants
- ADRM1 p.Ala245Thr Uncertain significance ★ ⚠ same residue
- ADRM1 p.Ala324Val Benign ★★ same type
- ADRM1 p.Asp266= 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.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-ala245 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown