ATAD3A p.Arg579=
c.1737T>C · rs750915679 · VCV1879071
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0233%, amr)
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 -7.7 | GERP -2.2 |
| Overall | ||
| CADD | 0.027 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0233%
Admixed American · 14/59,974 alleles
Filtering AF
0.0141%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0112%
Overall
0.00707%
114/1,613,160 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.0233% | 4,284 |
| European (non-Finnish) | 0.00797% | 12,550 |
| South Asian | 0.00439% | 22,767 |
| East Asian | 0.00223% | 44,870 |
| Remaining individualsnot grpmax-eligible | 0.0016% | 62,468 |
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
- ATAD3A
- Protein
- p.Arg579=
- Coding
- c.1737T>C
- MANE Select
- NM_001170535
- dbSNP
- rs750915679
- Type
- single nucleotide variant
- Location
- chr1:1534048 (GRCh38)
- Gene constraint
- LOEUF 0.861 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 82.35
- Residue 579
- a UniProt-annotated variant site (in phrinl)
Similar variants
- ATAD3A p.Arg579His Likely benign ★★ same residue
- ATAD3A p.Arg579Cys Uncertain significance ★ same residue
- ATAD3A p.Arg579Pro Uncertain significance ★ same residue
- ATAD3A c.1266+1G>A Likely pathogenic ★★ same type
- ATAD3A c.384+1G>A Likely pathogenic ★★ same type
- ATAD3A p.Arg528Gln Likely pathogenic ★★ ⚠ same type
- ATAD3A p.Arg528Trp Pathogenic/Likely pathogenic ★★ ⚠ same type
- ATAD3A c.282+5G>A 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/atad3a-p-arg579 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown