DNAI3 p.Asp577=
c.1731C>T · rs74095803 · VCV791799
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 1.7%, afr)
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 -0.2 | GERP -1.9, phastCons 0.25 |
| Overall | ||
| CADD | 5.189 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
1.7%
African / African-American · 1,276/74,904 alleles
Filtering AF
1.63%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.59%
Overall
0.0873%
1,408/1,613,586 alleles · low-frequency
exomes 673/1,461,566 · genomes 735/152,020 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 1.7% | 59 |
| Remaining individualsnot grpmax-eligible | 0.104% | 961 |
| Admixed American | 0.0717% | 1,395 |
| Middle Eastern | 0.0495% | 2,021 |
| South Asian | 0.00439% | 22,769 |
| European (non-Finnish) | 0.00144% | 69,401 |
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
- DNAI3
- Protein
- p.Asp577=
- Coding
- c.1731C>T
- MANE Select
- NM_145172
- dbSNP
- rs74095803
- Type
- single nucleotide variant
- Location
- chr1:85110080 (GRCh38)
- Gene constraint
- LOEUF 0.879 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 77.17 · 1 PDB
Similar variants
- DNAI3 c.1350+6C>A Benign ★★ same type
- DNAI3 p.Ala308Thr Benign ★★ same type
- DNAI3 p.Arg79= Benign ★★ same type
- DNAI3 p.Glu458= Likely benign ★★ same type
- DNAI3 p.Glu751= Benign ★★ same type
- DNAI3 p.His788= Benign ★★ same type
- DNAI3 p.His817= Benign ★★ same type
- DNAI3 p.Ile733= Benign ★★ 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/dnai3-p-asp577 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown