BCL2L2
Basic information
Region (hg38): 14:23298790-23311751
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the BCL2L2 gene is commonly pathogenic or not.
In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.
Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.
| Variant type | Pathogenic | Likely pathogenic | VUS | Likely benign | Benign | Sum |
|---|---|---|---|---|---|---|
| synonymous | 0 | |||||
| missense | 7 | |||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 7 | 0 | 0 |
Variants in BCL2L2
This is a list of pathogenic ClinVar variants found in the BCL2L2 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 14-23307940-G-A | not specified | Uncertain significance (Jun 16, 2023) | ||
| 14-23308149-G-T | not specified | Uncertain significance (Aug 31, 2022) | ||
| 14-23308829-C-T | not specified | Uncertain significance (Apr 18, 2023) | ||
| 14-23308858-G-T | not specified | Uncertain significance (Mar 31, 2024) | ||
| 14-23308859-C-T | not specified | Uncertain significance (Jul 20, 2021) | ||
| 14-23308865-G-A | not specified | Uncertain significance (Aug 02, 2021) | ||
| 14-23308865-G-C | not specified | Uncertain significance (Mar 05, 2024) | ||
| 14-23308939-G-A | not specified | Uncertain significance (Nov 10, 2022) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| BCL2L2 | protein_coding | protein_coding | ENST00000250405 | 2 | 12970 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.469 | 0.509 | 123857 | 0 | 10 | 123867 | 0.0000404 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 1.05 | 75 | 105 | 0.712 | 0.00000671 | 1219 |
| Missense in Polyphen | 15 | 24.694 | 0.60744 | 306 | ||
| Synonymous | -0.230 | 45 | 43.1 | 1.04 | 0.00000251 | 435 |
| Loss of Function | 1.83 | 1 | 5.74 | 0.174 | 2.47e-7 | 66 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.0000628 | 0.0000628 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.0000360 | 0.0000360 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.000164 | 0.000164 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Promotes cell survival. Blocks dexamethasone-induced apoptosis. Mediates survival of postmitotic Sertoli cells by suppressing death-promoting activity of BAX. {ECO:0000269|PubMed:8761287}.;
- Pathway
- MicroRNAs in cancer - Homo sapiens (human);Apoptosis Modulation and Signaling;Apoptosis;Photodynamic therapy-induced NF-kB survival signaling;Apoptotic Signaling Pathway;Regulation of Apoptosis by Parathyroid Hormone-related Protein;Direct p53 effectors
(Consensus)
Recessive Scores
- pRec
- 0.201
Intolerance Scores
- loftool
- 0.388
- rvis_EVS
- -0.03
- rvis_percentile_EVS
- 51.4
Haploinsufficiency Scores
- pHI
- 0.689
- hipred
- Y
- hipred_score
- 0.567
- ghis
- 0.529
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- S
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.965
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Bcl2l2
- Phenotype
- cellular phenotype; homeostasis/metabolism phenotype; endocrine/exocrine gland phenotype; reproductive system phenotype; growth/size/body region phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan);
Gene ontology
- Biological process
- spermatogenesis;intrinsic apoptotic signaling pathway in response to DNA damage;negative regulation of apoptotic process;Sertoli cell proliferation;extrinsic apoptotic signaling pathway in absence of ligand;negative regulation of intrinsic apoptotic signaling pathway
- Cellular component
- mitochondrial outer membrane;cytosol;Bcl-2 family protein complex
- Molecular function
- protein binding;identical protein binding;protein homodimerization activity;protein heterodimerization activity;BH domain binding;disordered domain specific binding