DNAH10 p.Ser4427=
c.13281C>T · rs149280453 · VCV2643543
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.234%, sas)
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 0.78 | GERP 0.55, phastCons 0.24 |
| Overall | ||
| CADD | 8.931 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.234%
South Asian · 213/91,060 alleles
Filtering AF
0.208%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.198%
Overall
0.0245%
395/1,613,748 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 0.234% | 428 |
| Middle Eastern | 0.17% | 588 |
| Remaining individualsnot grpmax-eligible | 0.0464% | 2,154 |
| Admixed American | 0.0117% | 8,575 |
| European (non-Finnish) | 0.0113% | 8,871 |
| Ashkenazi Jewishnot grpmax-eligible | 0.00338% | 29,604 |
| African / African-American | 0.00267% | 37,506 |
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.Ser4427=
- Coding
- c.13281C>T
- MANE Select
- NM_001372106
- dbSNP
- rs149280453
- Type
- single nucleotide variant
- Location
- chr12:123932093 (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-ser4427 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown