DNAH2 p.Pro1916=
c.5748C>T · rs145127395 · VCV2582953
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
rare (popmax 0.241%, 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 | GERP -3.5 |
| Overall | ||
| CADD | 7.339 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.241%
European (non-Finnish) · 2,846/1,179,838 alleles
Filtering AF
0.234%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.231%
Overall
0.186%
2,997/1,613,704 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.241% | 415 |
| Remaining individualsnot grpmax-eligible | 0.131% | 762 |
| Finnishnot grpmax-eligible | 0.0406% | 2,463 |
| African / African-American | 0.0253% | 3,946 |
| South Asian | 0.0143% | 7,003 |
| Admixed American | 0.0117% | 8,556 |
| East Asian | 0.00892% | 11,216 |
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
- DNAH2
- Protein
- p.Pro1916=
- Coding
- c.5748C>T
- MANE Select
- NM_020877
- dbSNP
- rs145127395
- Type
- single nucleotide variant
- Location
- chr17:7780182 (GRCh38)
- Gene constraint
- LOEUF 0.655 · pLI <0.01 (gnomAD)
- Residue 1916
- the 'aaa 1' region
Similar variants
- DNAH2 p.Ala1036Val Uncertain significance ★★ ⚠ same type
- DNAH2 p.Arg1533Cys Uncertain significance ★★ ⚠ same type
- DNAH2 p.Arg2538Gln Uncertain significance ★★ same type
- DNAH2 p.Arg3759His Uncertain significance ★★ ⚠ same type
- DNAH2 p.Gln2069Glu Uncertain significance ★★ same type
- DNAH2 p.Ile4043Ser Uncertain significance ★★ ⚠ same type
- DNAH2 p.Pro3819Leu Uncertain significance ★★ ⚠ same type
- DNAH2 c.10169+3G>A Benign ★★ 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/dnah2-p-pro1916 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown