DNAH2 p.Ala3233=
c.9699G>A · rs146334962 · VCV2647384
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 3 submitters
gnomAD v4.1
Rare
rare (popmax 0.908%, mid)
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 -5.2 | GERP -3 |
| Overall | ||
| CADD | 0.257 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.908%
Middle Eastern · 55/6,060 alleles
Filtering AF
0.716%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.647%
Overall
0.528%
8,515/1,612,474 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 0.908% | 110 |
| European (non-Finnish) | 0.606% | 165 |
| Admixed American | 0.573% | 175 |
| Remaining individualsnot grpmax-eligible | 0.514% | 195 |
| South Asian | 0.377% | 266 |
| Finnishnot grpmax-eligible | 0.3% | 334 |
| African / African-American | 0.117% | 853 |
| Ashkenazi Jewishnot grpmax-eligible | 0.0642% | 1,558 |
| East Asian | 0.00446% | 22,444 |
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
- DNAH2
- Protein
- p.Ala3233=
- Coding
- c.9699G>A
- MANE Select
- NM_020877
- dbSNP
- rs146334962
- Type
- single nucleotide variant
- Location
- chr17:7807556 (GRCh38)
- Gene constraint
- LOEUF 0.655 · pLI <0.01 (gnomAD)
- Residue 3233
- the 'stalk' region
Similar variants
- DNAH2 p.Ala3233Val Uncertain significance ★ same residue
- DNAH2 p.Ala1036Val Uncertain significance ★★ ⚠ same type
- DNAH2 p.Arg1533Cys Uncertain significance ★★ ⚠ same type
- DNAH2 p.Arg2538Gln Uncertain significance ★★ same type
- DNAH2 p.Arg3759His Uncertain significance ★★ ⚠ same type
- DNAH2 p.Gln2069Glu Uncertain significance ★★ same type
- DNAH2 p.Ile4043Ser Uncertain significance ★★ ⚠ same type
- DNAH2 p.Pro3819Leu 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/dnah2-p-ala3233 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown