DAB2IP p.Lys284=
c.852G>A · rs34839326 · VCV726685
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
rare (popmax 0.957%, 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 2.9 | GERP -3.1, phastCons 1 |
| Overall | ||
| CADD | 8.91 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.957%
Middle Eastern · 58/6,062 alleles
Filtering AF
0.76%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.689%
Overall
0.271%
4,381/1,613,972 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 0.957% | 105 |
| Admixed American | 0.373% | 268 |
| South Asian | 0.317% | 315 |
| European (non-Finnish) | 0.298% | 335 |
| Remaining individualsnot grpmax-eligible | 0.269% | 372 |
| Finnishnot grpmax-eligible | 0.0956% | 1,047 |
| African / African-American | 0.0746% | 1,340 |
| Ashkenazi Jewishnot grpmax-eligible | 0.0169% | 5,922 |
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
- DAB2IP
- Protein
- p.Lys284=
- Coding
- c.852G>A
- MANE Select
- NM_001395010
- dbSNP
- rs34839326
- Type
- single nucleotide variant
- Location
- chr9:121760121 (GRCh38)
- Gene constraint
- LOEUF 0.407 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 65.74
- Residue 284
- the c2 domain
Similar variants
- DAB2IP p.Ala816Thr Benign ★★ same type
- DAB2IP p.Arg199= Benign ★★ same type
- DAB2IP p.Arg966His Benign ★★ same type
- DAB2IP p.Asp97= Benign/Likely benign ★★ same type
- DAB2IP p.Pro126= Likely benign ★★ same type
- DAB2IP p.Ser460Leu Benign ★★ ⚠ same type
- DAB2IP p.Ser68= Likely benign ★★ same type
- DAB2IP p.Tyr334= 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/dab2ip-p-lys284 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown