DNAH7 p.Leu2918=
c.8754C>T · rs147463217 · VCV784458
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 4 submitters
gnomAD v4.1
Rare
low-frequency (popmax 1.12%, 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 -2.3 | GERP -3.7 |
| Overall | ||
| CADD | 3.505 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
1.12%
European (non-Finnish) · 13,211/1,179,954 alleles
Filtering AF
1.1%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.1%
Overall
0.896%
14,456/1,613,970 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 1.12% | 89 |
| Remaining individualsnot grpmax-eligible | 0.65% | 154 |
| Admixed American | 0.498% | 201 |
| Finnishnot grpmax-eligible | 0.42% | 238 |
| African / African-American | 0.203% | 493 |
| South Asian | 0.119% | 843 |
| Middle Eastern | 0.099% | 1,010 |
| Ashkenazi Jewishnot grpmax-eligible | 0.0169% | 5,922 |
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.Leu2918=
- Coding
- c.8754C>T
- MANE Select
- NM_018897
- dbSNP
- rs147463217
- Type
- single nucleotide variant
- Location
- chr2:195853370 (GRCh38)
- Gene constraint
- LOEUF 0.961 · pLI <0.01 (gnomAD)
Similar variants
- DNAH7 p.Leu2918Val Uncertain significance ★ same residue
- 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
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-leu2918 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown