DISP3 p.Asp532=
c.1596C>T · rs191060565 · VCV3049902
Benign
No assertion criteria
Classification
Benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.724%, eas)
Conditions
1
DISP3-related disorder
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 -5.3 | GERP -1.8 |
| Overall | ||
| CADD | 8.943 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.724%
East Asian · 325/44,874 alleles
Filtering AF
0.659%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.634%
Overall
0.0381%
615/1,613,816 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 0.724% | 138 |
| Remaining individualsnot grpmax-eligible | 0.048% | 2,083 |
| Admixed American | 0.025% | 3,999 |
| South Asian | 0.0198% | 5,058 |
| European (non-Finnish) | 0.0191% | 5,244 |
| Middle Eastern | 0.0165% | 6,058 |
| African / African-American | 0.00133% | 75,008 |
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
- DISP3
- Protein
- p.Asp532=
- Coding
- c.1596C>T
- MANE Select
- NM_020780
- dbSNP
- rs191060565
- Type
- single nucleotide variant
- Location
- chr1:11516008 (GRCh38)
- Gene constraint
- LOEUF 0.886 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 70.84
- Residue 532
- the ssd domain
Disease context
DISP3-related disorder
Similar variants
- DISP3 c.1749+5G>A Likely benign same condition
- DISP3 c.3230-4G>A Likely benign same condition
- DISP3 p.Ala1000= Likely benign same condition
- DISP3 p.Ala1297= Benign same condition
- DISP3 p.Ala650Thr Benign same condition
- DISP3 p.Arg1022His Likely benign same condition
- DISP3 p.Arg166Gln Likely benign same condition
- DISP3 p.Arg294= Likely benign same condition
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/disp3-p-asp532 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown