CCDC8

Chr 19

coiled-coil domain containing 8 subunit of 3M complex

Also known as: 3M3, PPP1R20, p90

NCBI Gene: 83987ENSG00000169515UniProt: Q9H0W5

This gene encodes a coiled-coil domain-containing protein. The encoded protein functions as a cofactor required for p53-mediated apoptosis following DNA damage, and may also play a role in growth through interactions with the cytoskeletal adaptor protein obscurin-like 1. Mutations in this gene are a cause of 3M syndrome-3 (3M3). [provided by RefSeq, Dec 2011]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProt3M syndrome 3

Clinical highlights

Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.
0
Active trials
12
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.83
LOEUF
LOF
Mechanism· G2P
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GeneReview available — CCDC8
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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?
0.83LOEUF
pLI 0.254
Z-score 1.88
OE 0.26 (0.11–0.83)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
-0.16Z-score
OE missense 1.03 (0.94–1.13)
319 obs / 311.1 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.26 (0.11–0.83)
0≤0.351.4
Missense OE?1.03 (0.94–1.13)
0≤0.61.4
Synonymous OE?1.14
0≤1.21.6
LoF obs/exp: 2 / 7.6Missense obs/exp: 319 / 311.1Syn Z: -1.24

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

CCDC8 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients