BCL7C

BAF chromatin remodeling complex subunit BCL7C, the group of BAF complex|MicroRNA protein coding host genes

Basic information

Region (hg38): 16:30833625-30894302

Links

ENSG00000099385 ∙ NCBI:9274 ∙ OMIM:605847 ∙ HGNC:1006 ∙ Uniprot:Q8WUZ0 ∙ 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 BCL7C gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the BCL7C 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			11	1		12
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	11	1	0

Variants in BCL7C

This is a list of pathogenic ClinVar variants found in the BCL7C region.

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

Position	Type	Phenotype	Significance	ClinVar
16-30887902-G-T		not specified	Uncertain significance (Dec 21, 2022)
16-30887917-G-A		not specified	Uncertain significance (Jun 01, 2023)
16-30887984-C-T		not specified	Uncertain significance (Jun 06, 2023)
16-30888857-C-G			not provided (-)
16-30892603-C-T		not specified	Likely benign (Sep 06, 2022)
16-30892606-G-T		not specified	Uncertain significance (Jun 13, 2023)
16-30892720-G-A		not specified	Uncertain significance (Oct 12, 2021)
16-30892869-C-G		not specified	Uncertain significance (May 03, 2023)
16-30892896-C-T		not specified	Uncertain significance (Nov 05, 2021)
16-30892900-G-A		not specified	Uncertain significance (Dec 21, 2023)
16-30892932-C-T		not specified	Uncertain significance (Aug 17, 2022)
16-30893274-T-C		not specified	Uncertain significance (May 10, 2023)
16-30893872-T-C		not specified	Uncertain significance (Dec 05, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
BCL7C	protein_coding	protein_coding	ENST00000215115	6	61335

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0795	0.911	125734	0	9	125743	0.0000358

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.977	111	144	0.771	0.00000862	1374
Missense in Polyphen		29	45.484	0.63759		404
Synonymous	0.782	48	55.4	0.866	0.00000314	484
Loss of Function	2.26	4	12.7	0.316	7.50e-7	120

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000936	0.0000906
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000583	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000356	0.0000352
Middle Eastern	0.0000583	0.0000544
South Asian	0.0000692	0.0000653
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May play an anti-apoptotic role. {ECO:0000250}.

Intolerance Scores

• loftool: 0.663
• rvis_EVS: -0.19
• rvis_percentile_EVS: 39.68

Haploinsufficiency Scores

• pHI: 0.332
• hipred: N
• hipred_score: 0.312
• ghis: 0.555

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.937

Mouse Genome Informatics

• Gene name: Bcl7c

Gene ontology

• Biological process: apoptotic process