ADARB2 p.Asp400=
c.1200T>C · rs551961865 · VCV749228
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.023%, 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 0.098 | GERP -4.1, phastCons 0.005 |
| Overall | ||
| CADD | 1.395 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.023%
African / African-American · 17/73,992 alleles
Filtering AF
0.0146%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.012%
Overall
0.00109%
17/1,558,308 alleles · ultra-rare
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
- ADARB2
- Protein
- p.Asp400=
- Coding
- c.1200T>C
- MANE Select
- NM_018702
- dbSNP
- rs551961865
- Type
- single nucleotide variant
- Location
- chr10:1242292 (GRCh38)
- Gene constraint
- LOEUF 0.681 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 71.69
Similar variants
- ADARB2 p.Asp400Asn Uncertain significance ★ ⚠ same residue
- ADARB2 p.Asp400His Uncertain significance ★ ⚠ same residue
- ADARB2 p.Arg457His Uncertain significance ★★ ⚠ same type
- ADARB2 p.Arg457Ser Uncertain significance ★★ ⚠ same type
- ADARB2 p.Ala125= Likely benign ★★ same type
- ADARB2 p.Arg328= Benign ★★ same type
- ADARB2 p.Arg657Gln Benign ★★ same type
- ADARB2 p.Glu300Lys 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/adarb2-p-asp400 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown