GENE REFERENCE / HGNC:1786

CDKN1C

cyclin dependent kinase inhibitor 1C

protein-coding gene11p15.4Gene information

What does this gene do?

The CDKN1C gene provides instructions for making a protein that helps regulate growth. This protein acts as a tumor suppressor, which means that it keeps cells from growing and dividing too fast or in an uncontrolled way. It is also active before birth; it regulates growth and prevents the developing fetus from becoming too large.

In most cases, one copy of each gene is derived from the sperm cell and one copy is derived from the egg cell. Both copies are typically active, or "turned on," in cells. However, the activity of the CDKN1C gene differs depending on whether the gene comes from the sperm cell or the egg cell. In most tissues, the copy of the gene that comes from the egg cell is more active than the copy that comes from the sperm cell. This sort of parent-specific difference in gene activation is called genomic imprinting.

A nearby region of DNA undergoes a process called methylation in which small molecules called methyl groups are used to regulate the genomic imprinting of the CDKN1C gene. This region is known as an imprinting center or imprinting control region. In most cases, this imprinting center is methylated only when it comes from the egg cell.

Source: MedlinePlus, National Library of Medicine. Source publication: 2025-03-04. Source review: 2025-03.

ClinGen reviews

ClinGen reviews the evidence linking a particular gene to a condition. Each rating below describes the strength of that link. It does not classify a variant in your DNA file.

Condition	Inheritance	Evidence
Beckwith-Wiedemann syndrome due to CDKN1C mutationMONDO:0016476 · Evaluated 2026-04-24	Autosomal dominant	DefinitiveHereditary Cancer Gene Curation Expert Panel

ClinVar records

These numbers show what has been submitted to ClinVar. They cannot tell you how likely you are to have a condition.

Submitted alleles: 1,335
Submissions for variants in or overlapping this gene: 1,904
Submissions explicitly reporting this gene: 1,850
Alleles reported pathogenic / likely pathogenic: 135
VariationIDs with uncertain significance: 604
VariationIDs with conflicting classifications: 51

The rows count different things: alleles, submissions or VariationIDs. Their categories can overlap, so do not add them together. Pathogenic/likely pathogenic counts exclude structural variants that merely overlap a gene. A dash in the source means “not reported,” not zero.

NCBI produces the gene-summary file each week using counts recorded at the start of the month. The numbers may differ from those on the live ClinVar website. Read the field definitions ↗

View this gene in ClinVar ↗

YOUR DNA FILE

Can your DNA file tell you about CDKN1C?

From a DNA test kit (such as 23andMe, AncestryDNA or MyHeritage). These kits check a fixed list of about 600,000 to 700,000 positions across your whole genome. ClinVar lists 135 alleles in CDKN1C reported as pathogenic or likely pathogenic. A kit checks only some of these positions, and often none of them.

From whole genome sequencing (a VCF file). Sequencing reads most of your genome. Your file lists the places where your DNA differs from the reference genome. Some regions are hard to sequence, including parts of some genes that have near-identical copies elsewhere, and a VCF file does not record which positions were read well.

If a variant is not in your file, that does not mean you don’t have it.

What BioDecode checks

BioDecode compares every variant in your file with ClinVar, on your own computer. For each match, it shows the ClinVar classification, the review status and the condition it was reported for. Your file is not uploaded.

A ClinVar classification applies to one particular variant and the condition it was reported for. It does not tell you about other variants in CDKN1C.

BioDecode cannot fill gaps in your test, diagnose a condition or replace clinical testing.

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