BCL2L14

BCL2 like 14, the group of BCL2 family

Basic information

Region (hg38): 12:12049844-12211084

Links

ENSG00000121380 ∙ NCBI:79370 ∙ OMIM:606126 ∙ HGNC:16657 ∙ Uniprot:Q9BZR8 ∙ 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 BCL2L14 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the BCL2L14 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					1	1
missense			17	1		18
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	17	1	1

Variants in BCL2L14

This is a list of pathogenic ClinVar variants found in the BCL2L14 region.

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

Position	Type	Phenotype	Significance	ClinVar
12-12079349-A-G		not specified	Uncertain significance (Aug 09, 2021)
12-12079387-G-A		not specified	Uncertain significance (Nov 12, 2021)
12-12079405-C-T		not specified	Uncertain significance (Aug 28, 2023)
12-12079429-C-A		not specified	Uncertain significance (Mar 11, 2022)
12-12079472-G-A		not specified	Likely benign (Mar 06, 2023)
12-12079512-G-A			Benign (Jul 23, 2018)
12-12079519-T-C		not specified	Uncertain significance (Mar 04, 2024)
12-12079575-G-T		not specified	Uncertain significance (Jan 17, 2024)
12-12079637-A-G		not specified	Uncertain significance (Dec 20, 2023)
12-12087282-A-C		not specified	Uncertain significance (Jun 09, 2022)
12-12087292-G-C		not specified	Uncertain significance (Nov 17, 2023)
12-12087360-T-C		not specified	Uncertain significance (Jun 21, 2021)
12-12090784-G-A		not specified	Uncertain significance (Apr 08, 2024)
12-12090809-T-C		not specified	Uncertain significance (Nov 21, 2023)
12-12094823-G-A		not specified	Uncertain significance (Aug 21, 2023)
12-12094835-G-T		not specified	Uncertain significance (Apr 19, 2024)
12-12094839-T-C		not specified	Uncertain significance (Aug 22, 2023)
12-12094858-C-G		not specified	Uncertain significance (Apr 05, 2023)
12-12098960-T-C		not specified	Uncertain significance (Dec 27, 2022)
12-12098980-G-A		not specified	Uncertain significance (Sep 16, 2021)
12-12098981-T-C		not specified	Uncertain significance (Mar 14, 2023)
12-12121145-G-A			Uncertain significance (Oct 23, 2023)
12-12121146-G-A		Keratoconus	Uncertain significance (Feb 18, 2018)
12-12121163-T-A		Inborn genetic diseases	Uncertain significance (Mar 18, 2024)
12-12121168-G-A			Likely benign (Jul 13, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
BCL2L14	protein_coding	protein_coding	ENST00000308721	5	161241

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000333	0.820	125712	1	34	125747	0.000139

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.0000916	170	170	1.00	0.00000843	2140
Missense in Polyphen		56	53.232	1.052		705
Synonymous	0.404	65	69.3	0.938	0.00000396	625
Loss of Function	1.28	9	14.2	0.634	6.54e-7	176

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000366	0.000365
Ashkenazi Jewish	0.00	0.00
East Asian	0.000272	0.000217
Finnish	0.00	0.00
European (Non-Finnish)	0.0000618	0.0000615
Middle Eastern	0.000272	0.000217
South Asian	0.000595	0.000555
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Plays a role in apoptosis.
• Pathway: TP53 Regulates Transcription of Cell Death Genes;Regulation of Apoptosis by Parathyroid Hormone-related Protein;Gene expression (Transcription);Generic Transcription Pathway;TP53 Regulates Transcription of Cell Death Genes;RNA Polymerase II Transcription;TP53 regulates transcription of several additional cell death genes whose specific roles in p53-dependent apoptosis remain uncertain;Transcriptional Regulation by TP53;Direct p53 effectors (Consensus)

Recessive Scores

• pRec: 0.0816

Intolerance Scores

• loftool: 0.212
• rvis_EVS: 0.91
• rvis_percentile_EVS: 89.47

Haploinsufficiency Scores

• pHI: 0.0588
• hipred: N
• hipred_score: 0.145
• ghis: 0.414

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.766

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Bcl2l14

Gene ontology

• Biological process: apoptotic process;regulation of apoptotic process
• Cellular component: cytosol;endomembrane system;membrane;intracellular organelle
• Molecular function: protein binding;protein kinase binding