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BRD3

Synonyms
ORFX, RING3L
External resources
Summary
This gene was identified based on its homology to the gene encoding the RING3 protein, a serine/threonine kinase. The gene localizes to 9q34, a region which contains several major histocompatibility complex (MHC) genes. The function of the encoded protein is not known.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
10
Likely pathogenic
1,592
VUS
2,796
Likely benign
5,589
Benign
0

Patient phenotypes

Proportions of phenotypes among 1601 patients carrying pathogenic or likely pathogenic variants on BRD3 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
40.7%
Abnormality of the cardiovascular system
25%
Abnormality of the musculoskeletal system
24.8%
Abnormality of the eye
20.2%
Abnormality of head or neck
20.2%
Abnormality of the integument
12.6%
Abnormality of the ear
12.1%
Growth abnormality
12.1%
Abnormality of the genitourinary system
10.9%
Abnormality of limbs
10.7%
Abnormality of the digestive system
8.8%
Abnormality of the immune system
7.6%
Abnormality of blood and blood-forming tissues
5.3%
Abnormality of the endocrine system
5.2%
Abnormality of the respiratory system
4.4%
Neoplasm
3.7%
Abnormality of prenatal development or birth
1.8%
Constitutional symptom
1.2%
Abnormal cellular phenotype
1.1%
Abnormality of the breast
0.6%
Abnormality of the voice
0.4%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%

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