Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 2.43%, 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 3.2 | GERP 1.9, phastCons 1 |
| Overall | ||
| CADD | 12.6 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
2.43%
African / African-American · 1,808/74,304 alleles
Filtering AF
2.34%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 2.3%
Overall
0.156%
2,475/1,587,630 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 2.43% | 41 |
| Ashkenazi Jewishnot grpmax-eligible | 0.395% | 253 |
| Middle Eastern | 0.253% | 395 |
| Remaining individualsnot grpmax-eligible | 0.249% | 401 |
| Admixed American | 0.246% | 407 |
| European (non-Finnish) | 0.0211% | 4,750 |
| South Asian | 0.00581% | 17,198 |
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.Phe697=
- Coding
- c.2091C>T
- MANE Select
- NM_001112
- dbSNP
- rs9983291
- Type
- single nucleotide variant
- Location
- chr21:45222182 (GRCh38)
- Gene constraint
- LOEUF 0.323 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 77.12 · 13 PDB
- Residue 697
- the a to i editase domain
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.Pro103= Benign ★★ same type
- ADARB1 p.Thr358= Likely 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-phe697 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown