DISP1 p.Asp294=
c.882C>T · rs184410712 · VCV3022438
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0936%, eas)
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 -5.7 | |
| Overall | ||
| CADD | 7.003 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0936%
East Asian · 42/44,848 alleles
Filtering AF
0.0712%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0633%
Overall
0.00378%
61/1,612,472 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 0.0936% | 1,068 |
| South Asian | 0.00329% | 30,351 |
| Admixed American | 0.00167% | 60,004 |
| Remaining individualsnot grpmax-eligible | 0.0016% | 62,444 |
| European (non-Finnish) | 0.00119% | 84,185 |
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
- DISP1
- Protein
- p.Asp294=
- Coding
- c.882C>T
- MANE Select
- NM_001377229
- dbSNP
- rs184410712
- Type
- single nucleotide variant
- Location
- chr1:222992103 (GRCh38)
- Gene constraint
- LOEUF 1.028 · pLI <0.01 · ClinGen HI 0/3 (gnomAD)
- Structure
- AlphaFold pLDDT 65.21 · 4 PDB
- Residue 294
- a UniProt-annotated variant site (in hpe10; uncertain significance; heterozygous variant inherited from unaffected parent)
Similar variants
- DISP1 p.Ala1123Thr Uncertain significance ★★ ⚠ same type
- DISP1 p.Ala1204Thr Uncertain significance ★★ ⚠ same type
- DISP1 p.Ala248Val Uncertain significance ★★ ⚠ same type
- DISP1 p.Ala733Val Uncertain significance ★★ ⚠ same type
- DISP1 p.Arg1061His Uncertain significance ★★ ⚠ same type
- DISP1 p.Arg718His Uncertain significance ★★ ⚠ same type
- DISP1 p.Arg763His Uncertain significance ★★ ⚠ same type
- DISP1 p.Asn1035Ser 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/disp1-p-asp294 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown