ADPRS p.Asp78=
c.234C>T · rs768000 · VCV3058872
Benign
No assertion criteria
Classification
Benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Common
common (popmax 21%, eas) — too common for a highly-penetrant pathogenic allele
Conditions
1
ADPRS-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 2.2 | GERP 1.6, phastCons 1 |
| Overall | ||
| CADD | 10.75 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
21%
East Asian · 9,404/44,872 alleles
Filtering AF
20.6%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 20.5%
Overall
1.34%
21,630/1,614,118 alleles · common
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 21% | 5 |
| African / African-American | 5.7% | 18 |
| Admixed American | 4.27% | 23 |
| Finnishnot grpmax-eligible | 2.71% | 37 |
| Remaining individualsnot grpmax-eligible | 2.35% | 42 |
| South Asian | 0.803% | 125 |
| Middle Eastern | 0.743% | 135 |
| European (non-Finnish) | 0.118% | 846 |
| Ashkenazi Jewishnot grpmax-eligible | 0.0338% | 2,961 |
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
- ADPRS
- Protein
- p.Asp78=
- Coding
- c.234C>T
- MANE Select
- NM_017825
- dbSNP
- rs768000
- Type
- single nucleotide variant
- Location
- chr1:36091266 (GRCh38)
- Gene constraint
- LOEUF 1.155 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 95.70 · 14 PDB
- Residue 78
- a binding site; an α-helix
Disease context
ADPRS-related disorder
Similar variants
- ADPRS p.Val335Gly Pathogenic/Likely pathogenic ★★ same condition
- ADPRS p.Arg156Gln Likely pathogenic ★ same condition
- ADPRS p.Gln106Ter Pathogenic/Likely pathogenic ★★ same type
- ADPRS p.Ser177Leu Likely pathogenic ★★ same type
- ADPRS p.Thr79Pro Pathogenic/Likely pathogenic ★★ same type
- ADPRS p.Ala94Asp Uncertain significance ★★ ⚠ same type
- ADPRS p.Arg175Trp Uncertain significance ★★ ⚠ same type
- ADPRS p.Pro336Leu 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/adprs-p-asp78 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown