ADARB1 p.Thr358=
c.1074A>G · rs147573765 · VCV2652787
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 1.34%, mid)
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 -2.2 | GERP -3.5 |
| Overall | ||
| CADD | 3.307 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
1.34%
Middle Eastern · 81/6,060 alleles
Filtering AF
1.1%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.02%
Overall
0.2%
3,222/1,612,282 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 1.34% | 75 |
| Ashkenazi Jewishnot grpmax-eligible | 1.16% | 87 |
| Admixed American | 0.352% | 284 |
| Remaining individualsnot grpmax-eligible | 0.264% | 378 |
| South Asian | 0.256% | 390 |
| European (non-Finnish) | 0.181% | 553 |
| African / African-American | 0.076% | 1,316 |
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.Thr358=
- Coding
- c.1074A>G
- MANE Select
- NM_001112
- dbSNP
- rs147573765
- Type
- single nucleotide variant
- Location
- chr21:45180440 (GRCh38)
- Gene constraint
- LOEUF 0.323 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 77.12 · 13 PDB
- Residue 358
- 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-thr358 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown