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BCL2

Synonyms
Bcl-2, PPP1R50
External resources
Summary
This gene encodes an integral outer mitochondrial membrane protein that blocks the apoptotic death of some cells such as lymphocytes. Constitutive expression of BCL2, such as in the case of translocation of BCL2 to Ig heavy chain locus, is thought to be the cause of follicular lymphoma. Alternative splicing results in multiple transcript variants.

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
0
Likely pathogenic
0
VUS
1,000
Likely benign
13
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on BCL2 gene.

Phenotype class
Patients in 3billion (%)

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