CEP15

Chr 3

centrosomal protein 15

Also known as: C3orf14, HT021

NCBI Gene: 57415 ENSG00000114405 UniProt: Q9HBI5

CEP15 encodes a protein predicted to be located in the cilium and may be involved in ciliary assembly. Mutations in CEP15 have not been definitively associated with human disease based on the available information. The gene shows low constraint against loss-of-function variants (pLI near 0, LOEUF >1), suggesting tolerance to such mutations.

ResearchSummary from RefSeq, UniProt

Predicted to be located in cilium. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

LOEUF 1.80

Clinical Summary— CEP15

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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ClinVar Variants

1 VUS of 6 total submissions

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.80LOEUF

pLI 0.000

Z-score -0.17

OE 1.07 (0.60–1.80)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.35Z-score

OE missense 0.88 (0.71–1.09)

57 obs / 64.9 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?1.07 (0.60–1.80)

0≤0.351.4

Missense OE?0.88 (0.71–1.09)

0≤0.61.4

Synonymous OE?0.89

0≤1.21.6

LoF obs/exp: 7 / 6.5Missense obs/exp: 57 / 64.9Syn Z: 0.40

ClinVar Variant Classifications

6 submitted variants in ClinVar

ClinVar

Classification Summary

VUS1

VUS

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Total
Pathogenic	0	0
Likely Pathogenic	0	0
VUS	1	1
Likely Benign	0	0
Benign	0	0
Total	1	1

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

9 pathogenic / likely-pathogenic (of 12) ClinVar copy-number / structural variants overlap CEP15 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →