Is CCDC40 p.Asp1010= (c.3030T>C) pathogenic?

CCDC40 p.Asp1010= (c.3030T>C) is classified Benign/Likely benign in CCDC40 (ClinVar, Multiple submitters, 12 submitters; last evaluated 2026-02-04). Common (popmax 82.1%, mid) — too common for a highly-penetrant pathogenic allele; Associated with primary ciliary dyskinesia 15.

What condition is associated with CCDC40 p.Asp1010= (c.3030T>C)?

CCDC40 p.Asp1010= (c.3030T>C) is associated with primary ciliary dyskinesia 15, primary ciliary dyskinesia (ClinVar).

How is Primary ciliary dyskinesia inherited?

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

CCDC40 p.Asp1010=

Q: How common is CCDC40 p.Asp1010= (c.3030T>C) in the general population?

CCDC40 p.Asp1010= (c.3030T>C) is common (popmax 82.1%, mid) — too common for a highly-penetrant pathogenic allele (gnomAD).

c.3030T>C · rs12952612 · VCV178711

Benign/Likely benign Multiple submitters

Classification

Benign/Likely benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 12 submitters

gnomAD v4.1

Common

common (popmax 82.1%, mid) — too common for a highly-penetrant pathogenic allele

Conditions

primary ciliary dyskinesia 15

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 0.44	GERP -3.1, phastCons 0.99
Overall
CADD	1.726	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 82.1% Middle Eastern · 4,974/6,062 alleles

Filtering AF 80.9% ClinGen BA1/BS1 input FAF95, joint · FAF99 80.7%

Overall 74% 1,194,378/1,613,562 alleles · common

Ancestry group	Frequency	1 in
Middle Easterngrpmax	82.1%	1
South Asian	81.4%	1
Finnishnot grpmax-eligible	79.9%	1
Ashkenazi Jewishnot grpmax-eligible	79.9%	1
Remaining individualsnot grpmax-eligible	74.7%	1
European (non-Finnish)	74.4%	1
African / African-American	69.3%	1
East Asian	69%	1
Amishnot grpmax-eligible	64.9%	2
Admixed American	54.3%	2

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: CCDC40
Protein: p.Asp1010=
Coding: c.3030T>C
MANE Select: NM_017950
dbSNP: rs12952612
Type: single nucleotide variant
Location: chr17:80097253 (GRCh38)
Gene constraint: LOEUF 0.962 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
Structure: AlphaFold pLDDT 71.70 · 1 PDB

Full CCDC40 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

primary ciliary dyskinesia 15 — 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)

Similar variants

CCDC40 p.Asp1010Asn Uncertain significance ★ same residue
CCDC40 c.1159+1G>A Likely pathogenic ★★ same condition
CCDC40 c.1989+1G>A Pathogenic/Likely pathogenic ★★ same condition
CCDC40 c.2712-1G>T Pathogenic/Likely pathogenic ★★ same condition
CCDC40 c.855+1G>A Pathogenic/Likely pathogenic ★★ same condition
CCDC40 c.940-1G>C Pathogenic/Likely pathogenic ★★ same condition
CCDC40 c.940-2A>G Pathogenic ★★ same condition
CCDC40 p.Arg1059Ter Pathogenic/Likely pathogenic ★★ same condition

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/ccdc40-p-asp1010 (accessed [today's date]).

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