CCDC141

Chr 2

coiled-coil domain containing 141

Also known as: CAMDI

NCBI Gene: 285025 ENSG00000163492 UniProt: Q6ZP82 OMIM: 616031

Predicted to be involved in brain development. Predicted to act upstream of or within centrosome localization and cerebral cortex radially oriented cell migration. Predicted to be located in centrosome and cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]

GeneReviews OMIM Research

GeneReviews OMIM ResearchGenerating clinical summary…

MultiplemechanismLOEUF 1.00

Clinical Summary— CCDC141

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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 unique Pathogenic / Likely Pathogenic· 318 VUS of 520 total submissions

Explore recent and relevant literature in Research Assistant →

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GeneReview available — CCDC141

Authoritative clinical overview · Recommended first read

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.00LOEUF

pLI 0.000

Z-score 1.57

OE 0.80 (0.65–1.00)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

-0.04Z-score

OE missense 1.00 (0.94–1.07)

750 obs / 747.3 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?0.80 (0.65–1.00)

0≤0.351.4

Missense OE?1.00 (0.94–1.07)

0≤0.61.4

Synonymous OE?0.96

0≤1.21.6

LoF obs/exp: 59 / 73.5Missense obs/exp: 750 / 747.3Syn Z: 0.52

This gene — mechanism propensity

0.6453th %ile

GOF

0.7030th %ile

LOF

0.3452th %ile

This gene has evidence for multiple mechanisms of pathogenicity (gain-of-function and dominant-negative). Both the Badonyi & Marsh prediction and the broader genomic evidence point to gain-of-function as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.

GOFprediction above median

DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

520 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic1

VUS318

Likely Benign97

Benign84

Conflicting11

Pathogenic

318

VUS

Likely Benign

Benign

Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	LoF	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	0	0	1	0	1
Likely Pathogenic	0	0	0	0	0
VUS	12	295	9	2	318
Likely Benign	1	26	11	59	97
Benign	0	11	67	6	84
Conflicting	—				11
Total	13	332	88	67	511

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

View in ClinVar →

27 pathogenic / likely-pathogenic (of 37) ClinVar copy-number / structural variants overlap CCDC141 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →