DAB2 p.Arg296=
c.888T>C · rs34167601 · VCV740245
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
rare (popmax 0.916%, 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 0.3 | GERP -4.2, phastCons 0.46 |
| Overall | ||
| CADD | 6.921 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.916%
African / African-American · 687/75,028 alleles
Filtering AF
0.859%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.836%
Overall
0.0462%
746/1,614,146 alleles · rare
exomes 355/1,461,886 · genomes 391/152,260 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.916% | 109 |
| Remaining individualsnot grpmax-eligible | 0.048% | 2,084 |
| Admixed American | 0.0433% | 2,309 |
| European (non-Finnish) | 0.000254% | 393,342 |
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
- DAB2
- Protein
- p.Arg296=
- Coding
- c.888T>C
- MANE Select
- NM_001343
- dbSNP
- rs34167601
- Type
- single nucleotide variant
- Location
- chr5:39383071 (GRCh38)
- Gene constraint
- LOEUF 0.479 · pLI 0.99 (gnomAD)
- Structure
- AlphaFold pLDDT 54.33 · 3 PDB
- Residue 296
- the 'required for localization to clathrin-coated pits' region; the 'disordered' region
Similar variants
- DAB2 p.Arg296Cys Benign ★★ same residue
- DAB2 p.Leu206Pro Uncertain significance ★★ ⚠ same type
- DAB2 c.571-9T>A Benign ★★ same type
- DAB2 p.Asn226= Benign ★★ same type
- DAB2 p.Gln523His Likely benign ★★ same type
- DAB2 p.Pro529= Likely benign ★★ same type
- DAB2 p.Ser227= Benign ★★ same type
- DAB2 p.Thr505Ile 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/dab2-p-arg296 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown