DNAH7 p.Ala3189=
c.9567C>T · rs139963761 · VCV790341
Benign/Likely benign
Multiple submitters
Classification
Benign/Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 3 submitters
gnomAD v4.1
Rare
rare (popmax 0.842%, nfe)
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 -8.7 | GERP -3.9 |
| Overall | ||
| CADD | 0.223 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.842%
European (non-Finnish) · 9,938/1,179,984 alleles
Filtering AF
0.828%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.823%
Overall
0.714%
11,526/1,614,022 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.842% | 119 |
| Ashkenazi Jewishnot grpmax-eligible | 0.801% | 125 |
| Finnishnot grpmax-eligible | 0.79% | 127 |
| Remaining individualsnot grpmax-eligible | 0.611% | 164 |
| Admixed American | 0.313% | 319 |
| South Asian | 0.193% | 517 |
| African / African-American | 0.124% | 807 |
| Middle Eastern | 0.0495% | 2,020 |
| East Asian | 0.00669% | 14,952 |
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
- DNAH7
- Protein
- p.Ala3189=
- Coding
- c.9567C>T
- MANE Select
- NM_018897
- dbSNP
- rs139963761
- Type
- single nucleotide variant
- Location
- chr2:195816822 (GRCh38)
- Gene constraint
- LOEUF 0.961 · pLI <0.01 (gnomAD)
Similar variants
- DNAH7 p.Arg1884Gln Uncertain significance ★★ ⚠ same type
- DNAH7 p.Arg3272Gln Uncertain significance ★★ ⚠ same type
- DNAH7 p.Asn2116Ser Uncertain significance ★★ ⚠ same type
- DNAH7 p.Asp1219Gly Uncertain significance ★★ ⚠ same type
- DNAH7 p.Asp1787Gly Uncertain significance ★★ same type
- DNAH7 p.Asp2867Tyr Uncertain significance ★★ ⚠ same type
- DNAH7 p.Ile1203Met Uncertain significance ★★ ⚠ same type
- DNAH7 p.Leu1715Met 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/dnah7-p-ala3189 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown