Is DNAH5 p.Glu800= (c.2400G>A) pathogenic?

DNAH5 p.Glu800= (c.2400G>A) is classified Conflicting classifications of pathogenicity in DNAH5 (ClinVar, Conflicting submitters, 6 submitters; last evaluated 2026-01-26). Rare (popmax 0.165%, mid); Associated with primary ciliary dyskinesia 3.

What condition is associated with DNAH5 p.Glu800= (c.2400G>A)?

DNAH5 p.Glu800= (c.2400G>A) is associated with primary ciliary dyskinesia 3, primary ciliary dyskinesia (ClinVar).

How common is DNAH5 p.Glu800= (c.2400G>A) in the general population?

DNAH5 p.Glu800= (c.2400G>A) is rare (popmax 0.165%, mid) (gnomAD).

How is Primary ciliary dyskinesia inherited?

Typically Autosomal dominant, Autosomal recessive (Orphanet). A genetic counselor can assess individual risk for a family.

DNAH5 p.Glu800=

c.2400G>A · rs199951976 · VCV351202

Conflicting classifications of pathogenicity Conflicting submitters

Classification

Conflicting classifications of pathogenicity

ClinVar

Review

Conflicting submitters ★☆☆☆

ClinVar · 6 submitters

gnomAD v4.1

Rare

rare (popmax 0.165%, mid)

Conditions

primary ciliary dyskinesia 3

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not looked up on this page · why
Constraint at this position
Conservation	phyloP -0.012	GERP -0.2, phastCons 0.001
Overall
CADD	0.519	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.165% Middle Eastern · 10/6,062 alleles

Filtering AF 0.0903% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.0839%

Overall 0.0169% 273/1,614,032 alleles · rare

Ancestry group	Frequency	1 in
Middle Easterngrpmax	0.165%	606
South Asian	0.108%	929
Remaining individualsnot grpmax-eligible	0.0432%	2,315
Admixed American	0.03%	3,334
European (non-Finnish)	0.0101%	9,915
East Asian	0.00223%	44,874

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: DNAH5
Protein: p.Glu800=
Coding: c.2400G>A
dbSNP: rs199951976
Type: single nucleotide variant
Location: chr5:13894681 (GRCh38)

Full DNAH5 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

primary ciliary dyskinesia 3 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Also linked: primary ciliary dyskinesia

For Primary ciliary dyskinesia (Orphanet):

Inheritance: Autosomal dominant, Autosomal recessive, X-linked recessive
Onset: Neonatal
Prevalence: 1-5 / 10 000 (Pakistan)

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/dnah5-p-glu800 (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown