LRRC8B

leucine rich repeat containing 8 VRAC subunit B, the group of Volume regulated anion channel subunits

Basic information

Region (hg38): 1:89524829-89597861

Links

ENSG00000197147NCBI:23507OMIM:612888HGNC:30692Uniprot:Q6P9F7AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the LRRC8B gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the LRRC8B 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
clinvar
3
clinvar
4
missense
24
clinvar
1
clinvar
2
clinvar
27
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 24 2 5

Variants in LRRC8B

This is a list of pathogenic ClinVar variants found in the LRRC8B region.

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

Position Type Phenotype Significance ClinVar
1-89582767-C-T Benign (Aug 20, 2018)784444
1-89582768-G-A not specified Uncertain significance (Sep 17, 2021)2389874
1-89582841-A-G not specified Uncertain significance (Nov 07, 2023)3120975
1-89582849-G-A not specified Uncertain significance (Apr 06, 2023)2514634
1-89582868-T-C not specified Uncertain significance (Jul 20, 2021)2222017
1-89582895-A-C not specified Uncertain significance (Aug 21, 2023)2588388
1-89582925-G-A not specified Uncertain significance (Jan 29, 2024)3120976
1-89582972-G-A not specified Uncertain significance (May 20, 2024)2369750
1-89583197-C-T not specified Uncertain significance (Jan 23, 2024)3120977
1-89583201-C-A not specified Uncertain significance (May 03, 2023)2542438
1-89583223-G-A Benign (Dec 04, 2017)720897
1-89583311-C-T not specified Uncertain significance (Apr 12, 2022)2368840
1-89583378-G-A not specified Uncertain significance (Sep 22, 2023)3120978
1-89583512-G-A Benign (Jan 19, 2018)782380
1-89583515-T-G not specified Uncertain significance (Sep 01, 2021)2220016
1-89583529-G-A Benign (Aug 20, 2018)780245
1-89583765-T-A not specified Uncertain significance (Mar 16, 2024)3291764
1-89583939-A-G not specified Likely benign (Dec 03, 2021)2356357
1-89583941-G-A not specified Uncertain significance (Dec 16, 2023)3120968
1-89583942-G-A not specified Uncertain significance (May 20, 2024)3291766
1-89584023-C-T not specified Uncertain significance (Mar 24, 2023)2523538
1-89584046-A-C not specified Uncertain significance (Dec 19, 2022)2337093
1-89584056-G-A Benign (Dec 20, 2017)770489
1-89584119-A-G not specified Uncertain significance (Oct 05, 2023)3120969
1-89584223-C-G not specified Uncertain significance (Mar 07, 2024)3120970

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
LRRC8Bprotein_codingprotein_codingENST00000330947 273029
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.9960.003811257140231257370.0000915
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense2.542674120.6480.00002185265
Missense in Polyphen72170.560.422132251
Synonymous0.07901701710.9920.000009381587
Loss of Function4.29225.30.07920.00000127345

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0003560.000354
Ashkenazi Jewish0.00009930.0000992
East Asian0.0001090.000109
Finnish0.00004620.0000462
European (Non-Finnish)0.00006200.0000615
Middle Eastern0.0001090.000109
South Asian0.00003270.0000327
Other0.0001630.000163

dbNSFP

Source: dbNSFP

Function
FUNCTION: Non-essential component of the volume-regulated anion channel (VRAC, also named VSOAC channel), an anion channel required to maintain a constant cell volume in response to extracellular or intracellular osmotic changes (PubMed:24790029, PubMed:26824658, PubMed:28193731). The VRAC channel conducts iodide better than chloride and can also conduct organic osmolytes like taurine. Channel activity requires LRRC8A plus at least one other family member (LRRC8B, LRRC8C, LRRC8D or LRRC8E); channel characteristics depend on the precise subunit composition (PubMed:24790029, PubMed:26824658, PubMed:28193731). {ECO:0000269|PubMed:24790029, ECO:0000269|PubMed:26824658, ECO:0000269|PubMed:28193731}.;
Pathway
Transport of small molecules;Miscellaneous transport and binding events (Consensus)

Intolerance Scores

loftool
0.492
rvis_EVS
-1.35
rvis_percentile_EVS
4.58

Haploinsufficiency Scores

pHI
0.736
hipred
Y
hipred_score
0.740
ghis
0.590

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
gene_indispensability_pred
N
gene_indispensability_score
0.403

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Lrrc8b
Phenotype

Gene ontology

Biological process
cell volume homeostasis;inorganic anion transport;transmembrane transport;anion transmembrane transport
Cellular component
cytoplasm;endoplasmic reticulum membrane;plasma membrane;integral component of plasma membrane;ion channel complex
Molecular function
volume-sensitive anion channel activity;protein binding