GENE REFERENCE / HGNC:20893

BCOR

BCL6 corepressor

protein-coding geneXp11.4Gene information

What does this gene do?

The BCOR gene provides instructions for making a protein known as the BCL6 corepressor. A corepressor is a protein that cannot attach (bind) to DNA by itself, but it interacts with other DNA-binding proteins to suppress the activity of certain genes. In this case, the BCL6 corepressor partners with the DNA-binding protein produced from the BCL6 gene.

The BCL6 corepressor appears to play a critical role in early development, including the formation of the eyes and several other tissues and organs. Scientists believe that the BCL6 corepressor may also be involved in specifying the left and right sides of the body in the developing embryo. Research also shows that this protein may regulate development by influencing the self-destruction of cells that are damaged or no longer needed (apoptosis).

Source: MedlinePlus, National Library of Medicine. Source publication: 2025-09-30. Source review: 2024-11.

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
microphthalmia, syndromic 2MONDO:0010261 · Evaluated 2020-12-17	X-linked	DefinitiveSyndromic Disorders 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: 1,150
Submissions for variants in or overlapping this gene: 1,637
Submissions explicitly reporting this gene: 1,430
Alleles reported pathogenic / likely pathogenic: 147
VariationIDs with uncertain significance: 387
VariationIDs with conflicting classifications: 53

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 BCOR?

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 147 alleles in BCOR 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 BCOR.

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

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