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BCL7C

Synonyms
-
External resources
Summary
This gene is identified by the similarity of its product to the N-terminal region of BCL7A protein. The BCL7A protein is encoded by the gene known to be directly involved in a three-way gene translocation in a Burkitt lymphoma cell line. The function of this gene has not yet been determined. Two transcript variants encoding different isoforms have been found for this gene.

Variant counts

Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
14
Likely pathogenic
0
VUS
3,105
Likely benign
7
Benign
0

Patient phenotypes

Proportions of phenotypes among 13 patients carring pathogenic or likely pathogenic variants on BCL7C gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
53.8%
Abnormality of the eye
46.2%
Abnormality of head or neck
23.1%
Abnormality of the ear
23.1%
Abnormality of the genitourinary system
23.1%
Abnormality of the musculoskeletal system
23.1%
Abnormality of limbs
15.4%
Abnormality of the cardiovascular system
15.4%
Abnormality of the digestive system
15.4%
Abnormality of the integument
15.4%
Abnormality of prenatal development or birth
7.7%
Abnormality of the immune system
7.7%
Abnormality of the respiratory system
7.7%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Growth abnormality
0%
Neoplasm
0%

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