DNAH10 p.Asp2008=
c.6024T>C · rs34376881 · VCV774708
Benign/Likely benign
Multiple submitters
Classification
Benign/Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 5 submitters
gnomAD v4.1
Rare
rare (popmax 0.346%, 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 -13 | GERP -4.1 |
| Overall | ||
| CADD | 0.029 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.346%
Middle Eastern · 21/6,062 alleles
Filtering AF
0.25%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.237%
Overall
0.208%
3,363/1,613,952 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 0.346% | 289 |
| Ashkenazi Jewishnot grpmax-eligible | 0.345% | 290 |
| Admixed American | 0.285% | 351 |
| South Asian | 0.244% | 410 |
| European (non-Finnish) | 0.222% | 451 |
| Remaining individualsnot grpmax-eligible | 0.203% | 492 |
| Finnishnot grpmax-eligible | 0.13% | 771 |
| African / African-American | 0.0293% | 3,411 |
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.Asp2008=
- Coding
- c.6024T>C
- MANE Select
- NM_001372106
- dbSNP
- rs34376881
- Type
- single nucleotide variant
- Location
- chr12:123848804 (GRCh38)
- Gene constraint
- LOEUF 0.763 · pLI <0.01 (gnomAD)
- Residue 2008
- the 'aaa 1' region
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-asp2008 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown