Is CCDC65 p.Ter485= (c.*2dup) pathogenic?

CCDC65 p.Ter485= (c.2dup) is classified Uncertain significance in CCDC65 (ClinVar, Single submitter, 1 submitter; last evaluated 2020-08-05). Absent from gnomAD; Associated with primary ciliary dyskinesia 27.

What condition is associated with CCDC65 p.Ter485= (c.*2dup)?

CCDC65 p.Ter485= (c.*2dup) is associated with primary ciliary dyskinesia 27 (ClinVar).

How common is CCDC65 p.Ter485= (c.*2dup) in the general population?

CCDC65 p.Ter485= (c.*2dup) is absent from gnomAD (gnomAD).

How is Primary ciliary dyskinesia inherited?

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

CCDC65 p.Ter485=

c.*2dup · rs2137550413 · VCV1057879

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

stop-loss

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

primary ciliary dyskinesia 27

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	stop-loss	predicted loss-of-function
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP -0.082	GERP -1.9, phastCons 0.001

Predicted loss-of-function is descriptive, not an applied PVS1 code.

Population frequency

dbSNP / gnomAD

No gnomAD frequency available for this variant. 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: CCDC65
Protein: p.Ter485=
Coding: c.*2dup
MANE Select: NM_033124
dbSNP: rs2137550413
Type: Duplication
Location: chr12:48921441 (GRCh38)
Gene constraint: LOEUF 1.004 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 83.21 · 1 PDB

Full CCDC65 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

primary ciliary dyskinesia 27 — 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)

Similar variants

DRC2 p.Arg157fs Pathogenic ★ same condition
DRC2 p.Leu69fs Pathogenic ★ same condition
DRC2 c.1179+14dup Benign ★ same condition
DRC2 p.Glu165fs Pathogenic ★★ same condition
DRC2 p.Ile293fs Pathogenic/Likely pathogenic ★★ same condition
CCDC65 p.Arg70Gln Uncertain significance ★★ ⚠ same condition
CCDC65 p.Glu110Lys Uncertain significance ★★ ⚠ same condition
CCDC65 p.Lys158Asn Uncertain significance ★★ ⚠ 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/ccdc65-p-ter485 (accessed [today's date]).

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