HIBADH
Basic information
Region (hg38): 7:27525442-27662883
Links
Phenotypes
GenCC
Source:
- 3-hydroxyisobutyric aciduria (Limited), mode of inheritance: AR
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 HIBADH 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 | 17 | 18 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 1 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 0 | |||||
Total | 0 | 0 | 18 | 1 | 0 |
Variants in HIBADH
This is a list of pathogenic ClinVar variants found in the HIBADH region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
7-27531245-C-T | not specified | Uncertain significance (Feb 28, 2023) | ||
7-27531296-G-A | not specified | Uncertain significance (Dec 01, 2022) | ||
7-27531323-C-A | HIBADH-related disorder | Likely benign (Feb 22, 2023) | ||
7-27531334-G-T | not specified | Uncertain significance (Jan 18, 2022) | ||
7-27538378-T-C | not specified | Uncertain significance (May 05, 2023) | ||
7-27538416-G-T | not specified | Uncertain significance (Jun 22, 2021) | ||
7-27543001-T-C | not specified | Uncertain significance (Jun 27, 2022) | ||
7-27543002-T-TG | Uncertain significance (Nov 01, 2018) | |||
7-27543014-A-G | Uncertain significance (Aug 01, 2023) | |||
7-27543070-G-A | not specified | Uncertain significance (May 17, 2023) | ||
7-27543085-C-A | not specified | Uncertain significance (May 14, 2024) | ||
7-27629421-T-C | not specified | Uncertain significance (Dec 06, 2021) | ||
7-27649480-C-T | not specified | Uncertain significance (Apr 11, 2023) | ||
7-27649496-C-T | not specified | Uncertain significance (Oct 16, 2023) | ||
7-27649573-C-T | not specified | Uncertain significance (Mar 31, 2024) | ||
7-27649592-T-C | not specified | Uncertain significance (Apr 01, 2024) | ||
7-27662700-G-A | not specified | Uncertain significance (Sep 13, 2023) | ||
7-27662716-C-A | Uncertain significance (Aug 01, 2023) | |||
7-27662718-G-A | not specified | Uncertain significance (Aug 17, 2021) | ||
7-27662721-G-A | not specified | Uncertain significance (Feb 06, 2024) | ||
7-27662758-C-T | not specified | Uncertain significance (Feb 26, 2024) | ||
7-27662767-G-A | not specified | Uncertain significance (Mar 23, 2023) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
HIBADH | protein_coding | protein_coding | ENST00000265395 | 8 | 137554 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.00563 | 0.974 | 125729 | 0 | 17 | 125746 | 0.0000676 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 0.131 | 167 | 172 | 0.972 | 0.00000833 | 2156 |
Missense in Polyphen | 46 | 65.601 | 0.70121 | 779 | ||
Synonymous | -0.499 | 67 | 62.0 | 1.08 | 0.00000321 | 681 |
Loss of Function | 2.02 | 6 | 14.2 | 0.422 | 6.94e-7 | 195 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000276 | 0.000275 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.0000545 | 0.0000544 |
Finnish | 0.0000462 | 0.0000462 |
European (Non-Finnish) | 0.0000535 | 0.0000527 |
Middle Eastern | 0.0000545 | 0.0000544 |
South Asian | 0.000132 | 0.000131 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- Pathway
- Valine, leucine and isoleucine degradation - Homo sapiens (human);3-Methylglutaconic Aciduria Type I;Valine, Leucine and Isoleucine Degradation;2-Methyl-3-Hydroxybutryl CoA Dehydrogenase Deficiency;Isovaleric Aciduria;3-Methylcrotonyl Coa Carboxylase Deficiency Type I;Propionic Acidemia;Maple Syrup Urine Disease;3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency;Isobutyryl-coa dehydrogenase deficiency;3-hydroxyisobutyric aciduria;3-hydroxyisobutyric acid dehydrogenase deficiency;Isovaleric acidemia;Methylmalonate Semialdehyde Dehydrogenase Deficiency;Methylmalonic Aciduria;3-Methylglutaconic Aciduria Type IV;3-Methylglutaconic Aciduria Type III;Beta-Ketothiolase Deficiency;Amino Acid metabolism;Branched-chain amino acid catabolism;Metabolism of amino acids and derivatives;Metabolism;valine degradation;Valine, leucine and isoleucine degradation;Valine Leucine Isoleucine degradation
(Consensus)
Recessive Scores
- pRec
- 0.290
Intolerance Scores
- loftool
- 0.572
- rvis_EVS
- -0.43
- rvis_percentile_EVS
- 25.15
Haploinsufficiency Scores
- pHI
- 0.367
- hipred
- Y
- hipred_score
- 0.565
- ghis
- 0.593
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.997
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Hibadh
- Phenotype
- hematopoietic system phenotype; immune system phenotype; skeleton phenotype; homeostasis/metabolism phenotype;
Gene ontology
- Biological process
- valine catabolic process;branched-chain amino acid catabolic process;oxidation-reduction process
- Cellular component
- mitochondrion;mitochondrial matrix
- Molecular function
- 3-hydroxyisobutyrate dehydrogenase activity;oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor;NADP binding;NAD binding