AADAC p.Ser5=
c.15G>A · rs552581419 · VCV2654242
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.817%, sas)
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 -20 | GERP -3.6 |
| Overall | ||
| CADD | 1.89 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.817%
South Asian · 744/91,062 alleles
Filtering AF
0.768%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.749%
Overall
0.0483%
780/1,613,278 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 0.817% | 122 |
| Remaining individualsnot grpmax-eligible | 0.0368% | 2,717 |
| Admixed American | 0.00167% | 59,898 |
| European (non-Finnish) | 0.00102% | 98,296 |
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
- AADAC
- Protein
- p.Ser5=
- Coding
- c.15G>A
- MANE Select
- NM_001086
- dbSNP
- rs552581419
- Type
- single nucleotide variant
- Location
- chr3:151814177 (GRCh38)
- Gene constraint
- LOEUF 1.126 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 95.64
Similar variants
- AADAC p.Ala121Gly Uncertain significance ★ ⚠ same type
- AADAC p.Ala16Val Uncertain significance ★ ⚠ same type
- AADAC p.Ala319Glu Uncertain significance ★ ⚠ same type
- AADAC p.Arg146Ser Uncertain significance ★ ⚠ same type
- AADAC p.Arg169Cys Uncertain significance ★ ⚠ same type
- AADAC p.Arg169His Uncertain significance ★ ⚠ same type
- AADAC p.Arg330Cys Uncertain significance ★ ⚠ same type
- AADAC p.Arg92Gly 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/aadac-p-ser5 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown