CCDC86

Chr 11

coiled-coil domain containing 86

Also known as: Cgr1

NCBI Gene: 79080 ENSG00000110104 UniProt: Q9H6F5

The CCDC86 protein enables RNA binding and is required for proper chromosome segregation during mitosis and error-free mitotic progression. Mutations cause autosomal recessive intellectual developmental disorder with microcephaly, seizures, and spasticity, typically presenting in infancy. This gene is not highly constrained against loss-of-function variants.

ResearchSummary from RefSeq, UniProt

Enables RNA binding activity. Involved in chromosome segregation and mitotic nuclear division. Located in chromosome; nucleolus; and nucleoplasm. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.02

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?

1.02LOEUF

pLI 0.000

Z-score 1.49

OE 0.60 (0.37–1.02)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.48Z-score

OE missense 0.91 (0.81–1.02)

199 obs / 219.2 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.60 (0.37–1.02)

0≤0.351.4

Missense OE?0.91 (0.81–1.02)

0≤0.61.4

Synonymous OE?1.03

0≤1.21.6

LoF obs/exp: 10 / 16.6Missense obs/exp: 199 / 219.2Syn Z: -0.24

Background carrier burden — how many people carry a rare variant somewhere in CCDC86?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 89

473 rare PASS variants

Rare truncating (LoF)

1 in 720

72 rare PASS variants

Rare synonymous (reference)

1 in 250

216 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for CCDC86. 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 150	1 in 630
South Asian	~43k	1 in 80	1 in 4,800
Remaining (unassigned)	~30k	1 in 120	1 in 770
European (Finnish)	~27k	1 in 350	1 in 770
Admixed American	~22k	1 in 81	≈ 1 in 5,400
African / African American	~21k	1 in 90	1 in 1,600
East Asian	~20k	1 in 110	1 in 2,500
Ashkenazi Jewish	~13k	1 in 1,200	≈ 1 in 4,300
Middle Eastern	~2,884	1 in 85	≈ 1 in 2,900

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): All 4 coding exons well covered in gnomAD exomes and genomes.? see exons ↓