ADARB1 p.His552=
c.1656C>T · rs370522638 · VCV3239028
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.101%, sas)
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 -10 | GERP -4.3 |
| Overall | ||
| CADD | 4.636 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.101%
South Asian · 92/91,082 alleles
Filtering AF
0.0843%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0781%
Overall
0.00818%
132/1,614,058 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 0.101% | 990 |
| Middle Eastern | 0.0164% | 6,084 |
| Remaining individualsnot grpmax-eligible | 0.0096% | 10,415 |
| European (non-Finnish) | 0.00263% | 38,066 |
| East Asian | 0.00223% | 44,892 |
| African / African-American | 0.00133% | 74,912 |
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
- ADARB1
- Protein
- p.His552=
- Coding
- c.1656C>T
- MANE Select
- NM_001112
- dbSNP
- rs370522638
- Type
- single nucleotide variant
- Location
- chr21:45204645 (GRCh38)
- Gene constraint
- LOEUF 0.323 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 77.12 · 13 PDB
- Residue 552
- the a to i editase domain; a β-strand
Similar variants
- ADARB1 c.1397-354A>G Uncertain significance ★★ ⚠ same type
- ADARB1 p.Gly553Arg Uncertain significance ★★ ⚠ same type
- ADARB1 p.Pro345Leu Uncertain significance ★★ ⚠ same type
- ADARB1 p.Asn162= Likely benign ★★ same type
- ADARB1 p.Lys281= Benign/Likely benign ★★ same type
- ADARB1 p.Lys654= Benign ★★ same type
- ADARB1 p.Phe697= Benign ★★ same type
- ADARB1 p.Pro103= Benign ★★ 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/adarb1-p-his552 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown