DNAH10 p.Ser297=
c.891T>C · rs11057355 · VCV402613
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Common
common (popmax 99.9%, eas) — 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 -20 | GERP -3.9 |
| Overall | ||
| CADD | 0.005 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
99.9%
East Asian · 44,813/44,874 alleles
Filtering AF
99.1%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 98.8%
Overall
62.1%
1,002,871/1,613,770 alleles · common
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 99.9% | 1 |
| African / African-American | 78.8% | 1 |
| Admixed American | 72.7% | 1 |
| Ashkenazi Jewishnot grpmax-eligible | 69.5% | 1 |
| South Asian | 69.3% | 1 |
| Remaining individualsnot grpmax-eligible | 64.4% | 2 |
| Middle Eastern | 61.9% | 2 |
| Finnishnot grpmax-eligible | 60.9% | 2 |
| European (non-Finnish) | 58.3% | 2 |
| Amishnot grpmax-eligible | 47.3% | 2 |
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.Ser297=
- Coding
- c.891T>C
- MANE Select
- NM_001372106
- dbSNP
- rs11057355
- Type
- single nucleotide variant
- Location
- chr12:123783156 (GRCh38)
- Gene constraint
- LOEUF 0.763 · pLI <0.01 (gnomAD)
- Residue 297
- the 'stem' 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-ser297 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown