DDB2 p.Thr306=
c.918G>A · rs140886714 · VCV3025228
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
ultra-rare (popmax 0.0706%, 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 -7 | GERP -4.4 |
| Overall | ||
| CADD | 0.728 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0706%
African / African-American · 53/75,064 alleles
Filtering AF
0.0554%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.05%
Overall
0.00427%
69/1,614,194 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.0706% | 1,416 |
| South Asian | 0.00549% | 18,217 |
| East Asian | 0.00223% | 44,874 |
| Admixed American | 0.00167% | 60,020 |
| Remaining individualsnot grpmax-eligible | 0.0016% | 62,508 |
| Finnishnot grpmax-eligible | 0.00156% | 64,022 |
| European (non-Finnish) | 0.000593% | 168,577 |
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
- DDB2
- Protein
- p.Thr306=
- Coding
- c.918G>A
- MANE Select
- NM_000107
- dbSNP
- rs140886714
- Type
- single nucleotide variant
- Location
- chr11:47235307 (GRCh38)
- Gene constraint
- LOEUF 0.719 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 83.69 · 10 PDB
- Residue 306
- a β-strand
Similar variants
- DDB2 p.Thr306Met Uncertain significance ★ ⚠ same residue
- DDB2 c.702+1G>T Pathogenic/Likely pathogenic ★★ same type
- DDB2 p.Arg192Ter Pathogenic/Likely pathogenic ★★ same type
- DDB2 p.Arg273His Pathogenic/Likely pathogenic ★★ ⚠ same type
- DDB2 p.Arg355Ter Pathogenic ★★ same type
- DDB2 p.Arg332His Uncertain significance ★★ ⚠ same type
- DDB2 p.Cys66Gly Uncertain significance ★★ ⚠ same type
- DDB2 p.Glu178Ala 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/ddb2-p-thr306 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown