BTG4
Basic information
Region (hg38): 11:111467526-111514367
Links
Phenotypes
GenCC
Source:
- female infertility (Moderate), mode of inheritance: AR
- oocyte maturation defect 8 (Limited), mode of inheritance: AR
- oocyte maturation defect 8 (Strong), mode of inheritance: AR
Clinical Genomic Database
Source:
Condition | Inheritance | Intervention Categories | Intervention/Rationale | Manifestation Categories | References |
---|---|---|---|---|---|
Oocyte/zygote/embryo maturation arrest 8 | AR | General | Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing | Obstetric | 32502391 |
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 BTG4 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 | 18 | 20 | ||||
nonsense | 1 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 0 | |||||
Total | 0 | 2 | 18 | 1 | 0 |
Variants in BTG4
This is a list of pathogenic ClinVar variants found in the BTG4 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
11-111495211-G-A | not specified | Likely benign (May 10, 2022) | ||
11-111495236-G-C | not specified | Uncertain significance (Oct 12, 2021) | ||
11-111495244-C-T | not specified | Uncertain significance (Nov 02, 2021) | ||
11-111495248-C-G | not specified | Uncertain significance (Nov 27, 2024) | ||
11-111495268-C-T | not specified | Uncertain significance (Sep 23, 2023) | ||
11-111495269-G-A | not specified | Uncertain significance (Nov 03, 2022) | ||
11-111495282-C-A | not specified | Uncertain significance (Feb 14, 2023) | ||
11-111495314-C-T | not specified | Uncertain significance (Nov 06, 2023) | ||
11-111497242-GGAAT-G | Oocyte maturation defect 8 | Pathogenic (Apr 10, 2023) | ||
11-111497300-C-T | not specified | Uncertain significance (Sep 28, 2022) | ||
11-111497315-T-C | not specified | Uncertain significance (Jun 17, 2024) | ||
11-111497391-A-T | not specified | Uncertain significance (Sep 26, 2024) | ||
11-111498024-C-G | Oocyte maturation defect 8 | Pathogenic (Apr 10, 2023) | ||
11-111498035-T-A | not specified | Uncertain significance (Dec 04, 2024) | ||
11-111498074-T-C | not specified | Uncertain significance (Jul 09, 2024) | ||
11-111498106-T-C | not specified | Uncertain significance (Oct 27, 2022) | ||
11-111498611-C-T | Oocyte maturation defect 8 | Likely pathogenic (Apr 20, 2021) | ||
11-111498619-T-C | not specified | Uncertain significance (Apr 04, 2023) | ||
11-111498632-C-T | not specified | Uncertain significance (Jul 20, 2021) | ||
11-111498643-T-C | not specified | Uncertain significance (Jun 21, 2022) | ||
11-111498697-A-G | not specified | Uncertain significance (Aug 19, 2024) | ||
11-111498704-G-A | Oocyte maturation defect 8 | Likely pathogenic (Apr 20, 2021) | ||
11-111498772-C-T | not specified | Uncertain significance (Jan 03, 2024) | ||
11-111498776-T-C | Oocyte maturation defect 8 | Pathogenic (Apr 10, 2023) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
BTG4 | protein_coding | protein_coding | ENST00000356018 | 5 | 44829 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.167 | 0.820 | 125724 | 0 | 12 | 125736 | 0.0000477 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 0.241 | 111 | 118 | 0.938 | 0.00000621 | 1490 |
Missense in Polyphen | 39 | 39.59 | 0.9851 | 503 | ||
Synonymous | -0.261 | 44 | 41.9 | 1.05 | 0.00000234 | 389 |
Loss of Function | 2.15 | 3 | 10.5 | 0.285 | 4.44e-7 | 134 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.0000615 | 0.0000615 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.00 | 0.00 |
Finnish | 0.000140 | 0.000139 |
European (Non-Finnish) | 0.0000618 | 0.0000615 |
Middle Eastern | 0.00 | 0.00 |
South Asian | 0.0000327 | 0.0000327 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Shows marked antiproliferative activity, being able to induce G(1) arrest.;
- Pathway
- RNA degradation - Homo sapiens (human)
(Consensus)
Recessive Scores
- pRec
- 0.137
Intolerance Scores
- loftool
- 0.307
- rvis_EVS
- -0.3
- rvis_percentile_EVS
- 32.62
Haploinsufficiency Scores
- pHI
- 0.217
- hipred
- N
- hipred_score
- 0.259
- ghis
- 0.471
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.864
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Btg4
- Phenotype
Gene ontology
- Biological process
- cell cycle arrest;negative regulation of cell population proliferation;neuron differentiation;negative regulation of mitotic cell cycle
- Cellular component
- cellular_component;nucleus;cytoplasm
- Molecular function