BCL2L10

BCL2 like 10, the group of BCL2 family

Basic information

Region (hg38): 15:52109263-52112775

Links

ENSG00000137875 ∙ NCBI:10017 ∙ OMIM:606910 ∙ HGNC:993 ∙ Uniprot:Q9HD36 ∙ 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 BCL2L10 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the BCL2L10 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			15		1	16
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	15	0	1

Variants in BCL2L10

This is a list of pathogenic ClinVar variants found in the BCL2L10 region.

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

Position	Type	Phenotype	Significance	ClinVar
15-52109862-T-C		not specified	Uncertain significance (May 25, 2022)
15-52109863-C-A		not specified	Uncertain significance (Nov 20, 2024)
15-52109895-A-G		not specified	Uncertain significance (Feb 15, 2023)
15-52112264-C-T		not specified	Uncertain significance (Dec 09, 2024)
15-52112326-A-C		not specified	Uncertain significance (Nov 17, 2022)
15-52112378-G-C		not specified	Uncertain significance (Feb 05, 2025)
15-52112381-C-G		not specified	Uncertain significance (Nov 21, 2023)
15-52112384-T-A		not specified	Uncertain significance (Jul 25, 2023)
15-52112459-G-A		not specified	Uncertain significance (May 09, 2023)
15-52112507-G-A		not specified	Uncertain significance (Jun 13, 2022)
15-52112545-C-G		not specified	Uncertain significance (Dec 07, 2021)
15-52112551-A-G		not specified	Uncertain significance (Mar 07, 2023)
15-52112608-G-A		not specified	Uncertain significance (Feb 04, 2025)
15-52112618-G-A		not specified	Uncertain significance (Apr 18, 2024)
15-52112665-A-C			Benign (Oct 28, 2020)
15-52112689-T-C		not specified	Uncertain significance (Oct 04, 2022)
15-52112698-G-A		not specified	Uncertain significance (Mar 02, 2023)
15-52112710-C-G		not specified	Uncertain significance (Dec 11, 2024)
15-52112718-G-T		not specified	Uncertain significance (Sep 15, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
BCL2L10	protein_coding	protein_coding	ENST00000260442	2	3513

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0108	0.637	125235	0	22	125257	0.0000878

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.308	106	115	0.919	0.00000685	1243
Missense in Polyphen		30	27.609	1.0866		344
Synonymous	-1.49	70	55.9	1.25	0.00000339	452
Loss of Function	0.409	3	3.87	0.775	1.65e-7	48

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000295	0.000295
Ashkenazi Jewish	0.00	0.00
East Asian	0.000111	0.000109
Finnish	0.00	0.00
European (Non-Finnish)	0.0000684	0.0000620
Middle Eastern	0.000111	0.000109
South Asian	0.0000690	0.0000654
Other	0.000176	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Promotes cell survival. Suppresses apoptosis induced by BAX but not BAK. {ECO:0000269|PubMed:11278245}.
• Pathway: Busulfan Pathway, Pharmacodynamics;Apoptosis Modulation and Signaling;Regulation of Apoptosis by Parathyroid Hormone-related Protein (Consensus)

Recessive Scores

• pRec: 0.136

Haploinsufficiency Scores

• pHI: 0.0730
• hipred: N
• hipred_score: 0.285
• ghis: 0.517

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.800

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Bcl2l10
• Phenotype: normal phenotype

Zebrafish Information Network

• Gene name: bcl2l10
• Affected structure: whole organism
• Phenotype tag: abnormal
• Phenotype quality: dead

Gene ontology

• Biological process: activation of cysteine-type endopeptidase activity involved in apoptotic process;spermatogenesis;female gamete generation;intrinsic apoptotic signaling pathway in response to DNA damage;negative regulation of apoptotic process;extrinsic apoptotic signaling pathway in absence of ligand
• Cellular component: mitochondrion;mitochondrial outer membrane;cytosol;membrane;integral component of membrane;nuclear membrane
• Molecular function: protein binding;protein homodimerization activity;protein heterodimerization activity;caspase binding