DNAH10 p.Pro3374=
c.10122C>G · rs1594352943 · VCV751027
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.115%, mid)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.609 | indeterminate |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 2.1 | GERP -2.2, phastCons 1 |
| Overall | ||
| CADD | 12.1 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.115%
Middle Eastern · 7/6,082 alleles
Filtering AF
0.054%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0383%
Overall
0.00112%
18/1,613,144 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 0.115% | 869 |
| Admixed American | 0.00167% | 59,976 |
| Remaining individualsnot grpmax-eligible | 0.0016% | 62,434 |
| South Asian | 0.0011% | 90,978 |
| European (non-Finnish) | 0.000678% | 147,472 |
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
- DNAH10
- Protein
- p.Pro3374=
- Coding
- c.10122C>G
- MANE Select
- NM_001372106
- dbSNP
- rs1594352943
- Type
- single nucleotide variant
- Location
- chr12:123910660 (GRCh38)
- Gene constraint
- LOEUF 0.763 · pLI <0.01 (gnomAD)
Similar variants
- DNAH10 p.Ala2444Val Uncertain significance ★★ ⚠ same type
- DNAH10 p.Arg2111Trp Uncertain significance ★★ ⚠ same type
- DNAH10 p.Arg2957Gln Uncertain significance ★★ same type
- DNAH10 p.Arg3955His Uncertain significance ★★ ⚠ same type
- DNAH10 p.Asp3319Gly Uncertain significance ★★ ⚠ same type
- DNAH10 p.Glu4042Gln Uncertain significance ★★ ⚠ same type
- DNAH10 p.Gly4445Glu Uncertain significance ★★ same type
- DNAH10 p.Ile4202Thr 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/dnah10-p-pro3374 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown