ADM2 p.Arg83=
c.247C>A · rs200276239 · VCV718330
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 3 submitters
gnomAD v4.1
Rare
low-frequency (popmax 1.07%, 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 -0.7 | GERP -2.1 |
| Overall | ||
| CADD | 4.885 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
1.07%
African / African-American · 805/74,928 alleles
Filtering AF
1.01%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.988%
Overall
0.0676%
1,086/1,605,516 alleles · low-frequency
exomes 628/1,453,198 · genomes 458/152,318 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 1.07% | 93 |
| Ashkenazi Jewishnot grpmax-eligible | 0.454% | 220 |
| Remaining individualsnot grpmax-eligible | 0.111% | 899 |
| Middle Eastern | 0.0663% | 1,509 |
| Admixed American | 0.0571% | 1,752 |
| South Asian | 0.00332% | 30,135 |
| European (non-Finnish) | 0.00323% | 30,949 |
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
- ADM2
- Protein
- p.Arg83=
- Coding
- c.247C>A
- MANE Select
- NM_001253845
- dbSNP
- rs200276239
- Type
- single nucleotide variant
- Location
- chr22:50482703 (GRCh38)
- Gene constraint
- LOEUF 1.901 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 58.44 · 2 PDB
- Residue 83
- the 'disordered' region
Similar variants
- ADM2 p.Ala54Thr Uncertain significance ★ ⚠ same type
- ADM2 p.Ala75Val Uncertain significance ★ ⚠ same type
- ADM2 p.Arg107Gly Uncertain significance ★ ⚠ same type
- ADM2 p.Arg133Gln Uncertain significance ★ ⚠ same type
- ADM2 p.Arg42Trp Uncertain significance ★ ⚠ same type
- ADM2 p.Arg56Gln Uncertain significance ★ ⚠ same type
- ADM2 p.Arg87His Uncertain significance ★ ⚠ same type
- ADM2 p.Arg93Pro 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/adm2-p-arg83 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown