DNAH8 c.3333+129T>C
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Common
common (popmax 77.3%, 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 | ||
| Splice region | donor +129 | deep intronic (+129 nt into the intron) |
|---|---|---|
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 1.4 | GERP -1.5, phastCons 0.14 |
| Non-coding constraint | Z 2.38 | 1 kb window · o/e 0.77 · regional · uncalibrated |
| Overall | ||
| CADD | 2.211 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
77.3%
East Asian · 26,373/34,132 alleles
Filtering AF
76.5%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 76.2%
Overall
43.5%
273,843/630,000 alleles · common
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 77.3% | 1 |
| Admixed American | 54.9% | 2 |
| South Asian | 47.8% | 2 |
| Amishnot grpmax-eligible | 47% | 2 |
| Remaining individualsnot grpmax-eligible | 42.3% | 2 |
| European (non-Finnish) | 41.2% | 2 |
| Finnishnot grpmax-eligible | 37.3% | 3 |
| Ashkenazi Jewishnot grpmax-eligible | 37% | 3 |
| African / African-American | 35.8% | 3 |
| Middle Eastern | 35.1% | 3 |
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
- DNAH8
- Coding
- c.3333+129T>C
- MANE Select
- NM_001206927
- dbSNP
- rs1678691
- Type
- single nucleotide variant
- Location
- chr6:38814258 (GRCh38)
- Gene constraint
- LOEUF 0.692 · pLI <0.01 (gnomAD)
Similar variants
- DNAH8 c.10963-1G>A Likely pathogenic ★★ same type
- DNAH8 c.11563+1G>T Likely pathogenic ★★ same type
- DNAH8 c.2664+2T>C Likely pathogenic ★★ same type
- DNAH8 c.5734-1G>T Likely pathogenic ★★ same type
- DNAH8 p.Arg1090Ter Pathogenic/Likely pathogenic ★★ same type
- DNAH8 p.Arg207Ter Pathogenic/Likely pathogenic ★★ same type
- DNAH8 p.Arg2878Ter Pathogenic ★★ same type
- DNAH8 p.Arg4166Ter Pathogenic/Likely pathogenic ★★ 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/dnah8-c-3333-plus-129t-c (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown