DNAI3 p.Glu751=
c.2253A>G · rs79751387 · VCV767680
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Common
common (popmax 5.55%, afr) — too common for a highly-penetrant pathogenic allele
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 -0.3 | GERP -2.4, phastCons 0.001 |
| Overall | ||
| CADD | 1.667 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
5.55%
African / African-American · 4,162/75,008 alleles
Filtering AF
5.41%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 5.35%
Overall
0.307%
4,961/1,614,102 alleles · common
exomes 2,546/1,461,854 · genomes 2,415/152,248 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 5.55% | 18 |
| Middle Eastern | 0.709% | 141 |
| Remaining individualsnot grpmax-eligible | 0.459% | 218 |
| Admixed American | 0.43% | 233 |
| South Asian | 0.0231% | 4,337 |
| European (non-Finnish) | 0.016% | 6,243 |
| East Asian | 0.00223% | 44,874 |
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.Glu751=
- Coding
- c.2253A>G
- MANE Select
- NM_145172
- dbSNP
- rs79751387
- Type
- single nucleotide variant
- Location
- chr1:85126651 (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.Asp577= Benign ★★ same type
- DNAI3 p.Glu458= Likely 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-glu751 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown