LRRC8B
Basic information
Region (hg38): 1:89524829-89597861
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
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 | 4 | |||||
missense | 24 | 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) | |||
1-89582768-G-A | not specified | Uncertain significance (Sep 17, 2021) | ||
1-89582841-A-G | not specified | Uncertain significance (Nov 07, 2023) | ||
1-89582849-G-A | not specified | Uncertain significance (Apr 06, 2023) | ||
1-89582868-T-C | not specified | Uncertain significance (Jul 20, 2021) | ||
1-89582895-A-C | not specified | Uncertain significance (Aug 21, 2023) | ||
1-89582925-G-A | not specified | Uncertain significance (Jan 29, 2024) | ||
1-89582972-G-A | not specified | Uncertain significance (May 20, 2024) | ||
1-89583197-C-T | not specified | Uncertain significance (Jan 23, 2024) | ||
1-89583201-C-A | not specified | Uncertain significance (May 03, 2023) | ||
1-89583223-G-A | Benign (Dec 04, 2017) | |||
1-89583311-C-T | not specified | Uncertain significance (Apr 12, 2022) | ||
1-89583378-G-A | not specified | Uncertain significance (Sep 22, 2023) | ||
1-89583512-G-A | Benign (Jan 19, 2018) | |||
1-89583515-T-G | not specified | Uncertain significance (Sep 01, 2021) | ||
1-89583529-G-A | Benign (Aug 20, 2018) | |||
1-89583765-T-A | not specified | Uncertain significance (Mar 16, 2024) | ||
1-89583939-A-G | not specified | Likely benign (Dec 03, 2021) | ||
1-89583941-G-A | not specified | Uncertain significance (Dec 16, 2023) | ||
1-89583942-G-A | not specified | Uncertain significance (May 20, 2024) | ||
1-89584023-C-T | not specified | Uncertain significance (Mar 24, 2023) | ||
1-89584046-A-C | not specified | Uncertain significance (Dec 19, 2022) | ||
1-89584056-G-A | Benign (Dec 20, 2017) | |||
1-89584119-A-G | not specified | Uncertain significance (Oct 05, 2023) | ||
1-89584223-C-G | not specified | Uncertain significance (Mar 07, 2024) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
LRRC8B | protein_coding | protein_coding | ENST00000330947 | 2 | 73029 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.996 | 0.00381 | 125714 | 0 | 23 | 125737 | 0.0000915 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 2.54 | 267 | 412 | 0.648 | 0.0000218 | 5265 |
Missense in Polyphen | 72 | 170.56 | 0.42213 | 2251 | ||
Synonymous | 0.0790 | 170 | 171 | 0.992 | 0.00000938 | 1587 |
Loss of Function | 4.29 | 2 | 25.3 | 0.0792 | 0.00000127 | 345 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000356 | 0.000354 |
Ashkenazi Jewish | 0.0000993 | 0.0000992 |
East Asian | 0.000109 | 0.000109 |
Finnish | 0.0000462 | 0.0000462 |
European (Non-Finnish) | 0.0000620 | 0.0000615 |
Middle Eastern | 0.000109 | 0.000109 |
South Asian | 0.0000327 | 0.0000327 |
Other | 0.000163 | 0.000163 |
dbNSFP
Source:
- 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
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
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