DAB2 p.Arg762=
c.2286G>A · rs903537179 · VCV737773
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0134%, amr)
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 0.4 | GERP 0.35, phastCons 0.94 |
| Overall | ||
| CADD | 6.746 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0134%
Admixed American · 8/59,820 alleles
Filtering AF
0.00663%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00484%
Overall
0.000683%
11/1,611,594 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.0134% | 7,477 |
| Remaining individualsnot grpmax-eligible | 0.0016% | 62,412 |
| European (non-Finnish) | 0.00017% | 589,254 |
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.Arg762=
- Coding
- c.2286G>A
- MANE Select
- NM_001343
- dbSNP
- rs903537179
- Type
- single nucleotide variant
- Location
- chr5:39375046 (GRCh38)
- Gene constraint
- LOEUF 0.479 · pLI 0.99 (gnomAD)
- Structure
- AlphaFold pLDDT 54.33 · 3 PDB
- Residue 762
- the 'disordered' region; the 'required for interaction with myo6' region
Similar variants
- DAB2 p.Arg762Lys Uncertain significance ★ ⚠ same residue
- DAB2 p.Leu206Pro Uncertain significance ★★ ⚠ same type
- DAB2 c.571-9T>A Benign ★★ same type
- DAB2 p.Arg296= Benign ★★ same type
- DAB2 p.Arg296Cys Benign ★★ ⚠ same type
- DAB2 p.Asn226= Benign ★★ same type
- DAB2 p.Gln523His Likely benign ★★ ⚠ same type
- DAB2 p.Pro529= 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/dab2-p-arg762 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown