CCDC17

Chr 1

coiled-coil domain containing 17

NCBI Gene: 149483 ENSG00000159588 UniProt: Q96LX7

The CCDC17 protein's specific function is not well characterized based on the available data. Mutations in this gene have been implicated in colorectal adenocarcinoma, though the neurological phenotypes associated with CCDC17 variants are not defined in the provided information. The gene shows tolerance to loss-of-function variants with very low constraint metrics.

ResearchSummary from RefSeq

Implicated in colorectal adenocarcinoma. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

LOEUF 1.41

Clinical Summary— CCDC17

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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

111 VUS of 132 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?

1.41LOEUF

pLI 0.000

Z-score -0.23

OE 1.05 (0.79–1.41)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

1.14Z-score

OE missense 0.83 (0.76–0.92)

315 obs / 377.4 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?1.05 (0.79–1.41)

0≤0.351.4

Missense OE?0.83 (0.76–0.92)

0≤0.61.4

Synonymous OE?0.94

0≤1.21.6

LoF obs/exp: 32 / 30.6Missense obs/exp: 315 / 377.4Syn Z: 0.58

ClinVar Variant Classifications

132 submitted variants in ClinVar

ClinVar

Classification Summary

VUS111

Likely Benign4

Benign1

111

VUS

Likely Benign

Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Total
Pathogenic	0	0
Likely Pathogenic	0	0
VUS	111	111
Likely Benign	4	4
Benign	1	1
Total	116	116

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

View in ClinVar →

6 pathogenic / likely-pathogenic (of 23) ClinVar copy-number / structural variants overlap CCDC17 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →