CCDC102B

Chr 18

coiled-coil domain containing 102B

Also known as: ACY1L, AN, C18orf14, HsT1731

NCBI Gene: 79839 ENSG00000150636 UniProt: Q68D86

The protein maintains centrosome cohesion by forming fibers at the proximal ends of centrioles during interphase and dissociates during mitosis to allow centrosome separation. Mutations cause autosomal recessive retinal dystrophy and Bardet-Biedl syndrome, both ciliopathies affecting the retina and other organ systems. The gene shows tolerance to loss-of-function variation, consistent with recessive inheritance patterns.

ResearchSummary from RefSeq, UniProt

Enables protein serine/threonine kinase binding activity. Involved in centriole-centriole cohesion. Located in centriole. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.29

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.29LOEUF

pLI 0.000

Z-score 0.35

OE 0.93 (0.67–1.29)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-0.55Z-score

OE missense 1.10 (0.99–1.21)

280 obs / 255.2 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?0.93 (0.67–1.29)

0≤0.351.4

Missense OE?1.10 (0.99–1.21)

0≤0.61.4

Synonymous OE?0.90

0≤1.21.6

LoF obs/exp: 25 / 27.0Missense obs/exp: 280 / 255.2Syn Z: 0.75

Background carrier burden — how many people carry a rare variant somewhere in CCDC102B?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 59

687 rare PASS variants

Rare truncating (LoF)

1 in 900

147 rare PASS variants

Rare synonymous (reference)

1 in 240

222 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for CCDC102B. 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 92	1 in 1,200
South Asian	~43k	1 in 81	1 in 550
Remaining (unassigned)	~30k	1 in 65	1 in 310
European (Finnish)	~27k	1 in 330	≈ 1 in 13,000
Admixed American	~22k	1 in 68	1 in 500
African / African American	~21k	1 in 94	1 in 250
East Asian	~20k	1 in 70	1 in 460
Ashkenazi Jewish	~13k	1 in 310	≈ 1 in 13,000
Middle Eastern	~2,884	1 in 74	1 in 580

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): 5 of 7 coding exons well covered in gnomAD exomes; exons 4, 5 marginal. Genomes: all 7.? see exons ↓