Is DNAAF5 p.Pro115= (c.345G>A) pathogenic?

DNAAF5 p.Pro115= (c.345G>A) is classified Likely benign in DNAAF5 (ClinVar, Single submitter, 1 submitter; last evaluated 2021-02-14). No allele count reported in gnomAD v4.1 (AN 1,057,258); Associated with primary ciliary dyskinesia.

What condition is associated with DNAAF5 p.Pro115= (c.345G>A)?

DNAAF5 p.Pro115= (c.345G>A) is associated with primary ciliary dyskinesia (ClinVar).

How common is DNAAF5 p.Pro115= (c.345G>A) in the general population?

DNAAF5 p.Pro115= (c.345G>A) is no allele count reported in gnomAD v4.1 (AN 1,057,258) (gnomAD).

How is Primary ciliary dyskinesia inherited?

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

DNAAF5 p.Pro115=

c.345G>A · rs2484003438 · VCV1731623

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Not reported

no allele count reported in gnomAD v4.1 (AN 1,057,258)

Conditions

primary ciliary dyskinesia

⚠ Built without this gene's context — gene constraint and dosage, protein structure, pathways, panels and related-variant links were not looked up for this page. why

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 0.016	GERP -1.8, phastCons 0.72
Overall
CADD	11.41	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

No allele count reported in gnomAD v4.1 (AN 1,057,258). This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.

Variant & gene context

Gene: DNAAF5
Protein: p.Pro115=
Coding: c.345G>A
MANE Select: NM_017802
dbSNP: rs2484003438
Type: single nucleotide variant
Location: chr7:727065 (GRCh38)

Full DNAAF5 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

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

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/dnaaf5-p-pro115 (accessed [today's date]).

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