BCL2L15

BCL2 like 15, the group of BCL2 family

Basic information

Region (hg38): 1:113876815-113887581

Previous symbols: [ "C1orf178" ]

Links

ENSG00000188761 ∙ NCBI:440603 ∙ OMIM:619660 ∙ HGNC:33624 ∙ Uniprot:Q5TBC7 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the BCL2L15 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the BCL2L15 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			5			5
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	5	0	0

Variants in BCL2L15

This is a list of pathogenic ClinVar variants found in the BCL2L15 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
1-113881794-G-T		not specified	Uncertain significance (Jun 11, 2024)
1-113881940-C-T		not specified	Uncertain significance (Jul 14, 2021)
1-113886572-C-A		not specified	Uncertain significance (Mar 01, 2024)
1-113886628-A-G		not specified	Uncertain significance (Jun 16, 2024)
1-113886638-C-T		not specified	Uncertain significance (Aug 02, 2023)
1-113887299-G-A		not specified	Uncertain significance (Jan 03, 2024)
1-113887339-A-T		not specified	Uncertain significance (May 06, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
BCL2L15	protein_coding	protein_coding	ENST00000393316	4	9380

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0482	0.865	125590	0	91	125681	0.000362

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.250	87	93.8	0.927	0.00000499	1070
Missense in Polyphen		22	26.887	0.81825		304
Synonymous	0.780	26	31.6	0.823	0.00000164	312
Loss of Function	1.42	3	7.06	0.425	2.98e-7	88

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000557	0.0000544
Finnish	0.00348	0.00347
European (Non-Finnish)	0.0000890	0.0000880
Middle Eastern	0.0000557	0.0000544
South Asian	0.0000329	0.0000327
Other	0.000662	0.000653

dbNSFP

Source: dbNSFP

• Pathway: Regulation of Apoptosis by Parathyroid Hormone-related Protein (Consensus)

Recessive Scores

• pRec: 0.0758

Intolerance Scores

• loftool: 0.739
• rvis_EVS: -0.01
• rvis_percentile_EVS: 53.19

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.123
• ghis: 0.420

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0106

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Bcl2l15

Gene ontology

• Biological process: apoptotic process;regulation of apoptotic process
• Cellular component: nucleus;cytosol
• Molecular function: protein binding