BRS3
Basic information
Region (hg38): X:136487946-136493780
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 BRS3 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 | |||||
missense | 15 | 17 | ||||
nonsense | 1 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 0 | |||||
Total | 0 | 0 | 16 | 3 | 0 |
Variants in BRS3
This is a list of pathogenic ClinVar variants found in the BRS3 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
X-136488136-T-C | not specified | Uncertain significance (May 11, 2022) | ||
X-136488202-G-A | not specified | Uncertain significance (Sep 16, 2021) | ||
X-136488229-G-A | not specified | Uncertain significance (Feb 22, 2023) | ||
X-136488233-A-G | not specified | Uncertain significance (Jan 31, 2024) | ||
X-136488400-C-T | not specified | Uncertain significance (Nov 08, 2021) | ||
X-136488488-T-G | not specified | Uncertain significance (Mar 20, 2024) | ||
X-136490161-C-T | Uncertain significance (Oct 08, 2021) | |||
X-136490165-A-G | not specified | Uncertain significance (Jun 06, 2023) | ||
X-136490209-G-A | Likely benign (Nov 01, 2022) | |||
X-136490230-T-G | not specified | Uncertain significance (Jan 04, 2022) | ||
X-136490248-A-G | not specified | Uncertain significance (May 02, 2024) | ||
X-136490282-A-G | not specified | Uncertain significance (Jun 10, 2022) | ||
X-136490345-T-C | not specified | Uncertain significance (Feb 12, 2024) | ||
X-136490368-G-T | not specified | Uncertain significance (Apr 22, 2022) | ||
X-136490369-T-G | not specified | Uncertain significance (Feb 06, 2024) | ||
X-136491976-G-T | not specified | Uncertain significance (Apr 16, 2024) | ||
X-136491991-G-A | Likely benign (Apr 01, 2022) | |||
X-136492073-A-G | not specified | Uncertain significance (Dec 13, 2023) | ||
X-136492147-C-G | not specified | Uncertain significance (Feb 27, 2024) | ||
X-136492207-G-T | not specified | Uncertain significance (Jun 24, 2022) | ||
X-136492218-G-C | not specified | Uncertain significance (May 25, 2022) | ||
X-136492237-G-C | not specified | Likely benign (Nov 03, 2022) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
BRS3 | protein_coding | protein_coding | ENST00000370648 | 3 | 5894 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.948 | 0.0514 | 125539 | 1 | 0 | 125540 | 0.00000398 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 0.939 | 117 | 149 | 0.784 | 0.0000109 | 2591 |
Missense in Polyphen | 33 | 62.234 | 0.53025 | 1132 | ||
Synonymous | -0.274 | 62 | 59.3 | 1.05 | 0.00000455 | 834 |
Loss of Function | 2.83 | 0 | 9.35 | 0.00 | 7.55e-7 | 162 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.00 | 0.00 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.00 | 0.00 |
Finnish | 0.00 | 0.00 |
European (Non-Finnish) | 0.00 | 0.00 |
Middle Eastern | 0.00 | 0.00 |
South Asian | 0.0000524 | 0.0000327 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Role in sperm cell division, maturation, or function. This receptor mediates its action by association with G proteins that activate a phosphatidylinositol-calcium second messenger system.;
- Pathway
- Neuroactive ligand-receptor interaction - Homo sapiens (human);Peptide GPCRs;GPCRs, Class A Rhodopsin-like;Signaling by GPCR;Signal Transduction;Peptide ligand-binding receptors;Class A/1 (Rhodopsin-like receptors);GPCR ligand binding;G alpha (q) signalling events;GPCR downstream signalling
(Consensus)
Recessive Scores
- pRec
- 0.0878
Intolerance Scores
- loftool
- rvis_EVS
- -0.36
- rvis_percentile_EVS
- 28.63
Haploinsufficiency Scores
- pHI
- 0.368
- hipred
- Y
- hipred_score
- 0.738
- ghis
- 0.452
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.114
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Brs3
- Phenotype
- adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); growth/size/body region phenotype; homeostasis/metabolism phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan);
Gene ontology
- Biological process
- glucose metabolic process;G protein-coupled receptor signaling pathway;regulation of blood pressure;adult feeding behavior;bombesin receptor signaling pathway
- Cellular component
- plasma membrane;integral component of plasma membrane;integral component of membrane;neuron projection;neuronal cell body
- Molecular function
- G protein-coupled receptor activity;bombesin receptor activity