CCDC14

Chr 3

coiled-coil domain containing 14

NCBI Gene: 64770 ENSG00000175455 UniProt: Q49A88 OMIM: 617147

The CCDC14 protein negatively regulates centriole duplication and controls the centrosomal localization of CEP63 and CDK2, with involvement in protein localization to the centrosome and ciliary basal body. Mutations cause autosomal recessive primary microcephaly with short stature. The gene shows no intolerance to loss-of-function variants in the general population.

OMIM ResearchSummary from RefSeq, UniProt

Involved in protein localization to centrosome. Located in centriolar satellite. [provided by Alliance of Genome Resources, Jun 2026]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.97

LOEUF

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

0.97LOEUF

pLI 0.000

Z-score 1.69

OE 0.71 (0.53–0.97)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

0.78Z-score

OE missense 0.90 (0.83–0.97)

407 obs / 453.9 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.71 (0.53–0.97)

0≤0.351.4

Missense OE?0.90 (0.83–0.97)

0≤0.61.4

Synonymous OE?0.87

0≤1.21.6

LoF obs/exp: 28 / 39.5Missense obs/exp: 407 / 453.9Syn Z: 1.31

Background carrier burden — how many people carry a rare variant somewhere in CCDC14?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 46

1,256 rare PASS variants

Rare truncating (LoF)

1 in 300

238 rare PASS variants

Rare synonymous (reference)

1 in 130

430 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for CCDC14. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 81	1 in 280
South Asian	~43k	1 in 35	1 in 350
Remaining (unassigned)	~30k	1 in 46	1 in 370
European (Finnish)	~27k	1 in 180	1 in 540
Admixed American	~22k	1 in 55	1 in 320
African / African American	~21k	1 in 48	1 in 360
East Asian	~20k	1 in 54	1 in 460
Ashkenazi Jewish	~13k	1 in 230	≈ 1 in 6,300
Middle Eastern	~2,884	1 in 59	1 in 320

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): 9 of 13 coding exons well covered in gnomAD exomes; exons 2, 3, 5, 11 marginal. Genomes: all 13.? see exons ↓