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GeneBe

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

ENSG00000099385NCBI:9274OMIM:605847HGNC:1006Uniprot:Q8WUZ0AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the BCL7C gene.

  • Inborn genetic diseases (11 variants)
  • not provided (1 variants)

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
10
clinvar
1
clinvar
11
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
?
0
non coding
?
0
Total 0 0 10 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 Inborn genetic diseases Uncertain significance (Dec 21, 2022)2205794
16-30887917-G-A Inborn genetic diseases Uncertain significance (Jun 01, 2023)2522976
16-30887984-C-T Inborn genetic diseases Uncertain significance (Jun 06, 2023)2569200
16-30888857-C-G not provided (-)1878504
16-30892603-C-T Inborn genetic diseases Likely benign (Sep 06, 2022)2223266
16-30892606-G-T Inborn genetic diseases Uncertain significance (Jun 13, 2023)2570243
16-30892720-G-A Inborn genetic diseases Uncertain significance (Oct 12, 2021)2254400
16-30892869-C-G Inborn genetic diseases Uncertain significance (May 03, 2023)2543387
16-30892896-C-T Inborn genetic diseases Uncertain significance (Nov 05, 2021)2258897
16-30892932-C-T Inborn genetic diseases Uncertain significance (Aug 17, 2022)2308011
16-30893274-T-C Inborn genetic diseases Uncertain significance (May 10, 2023)2535517
16-30893872-T-C Inborn genetic diseases Uncertain significance (Dec 05, 2022)2332521

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
BCL7Cprotein_codingprotein_codingENST00000215115 661335
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.07950.911125734091257430.0000358
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.9771111440.7710.000008621374
Missense in Polyphen2945.4840.63759404
Synonymous0.7824855.40.8660.00000314484
Loss of Function2.26412.70.3167.50e-7120

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.00009360.0000906
Ashkenazi Jewish0.000.00
East Asian0.00005830.0000544
Finnish0.000.00
European (Non-Finnish)0.00003560.0000352
Middle Eastern0.00005830.0000544
South Asian0.00006920.0000653
Other0.000.00

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
Phenotype

Gene ontology

Biological process
apoptotic process
Cellular component
Molecular function