GGT6
Basic information
Region (hg38): 17:4556926-4560818
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 GGT6 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 | 34 | 42 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 0 | |||||
Total | 0 | 0 | 34 | 7 | 2 |
Variants in GGT6
This is a list of pathogenic ClinVar variants found in the GGT6 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
17-4558043-T-C | not specified | Uncertain significance (Oct 27, 2023) | ||
17-4558065-C-T | not specified | Uncertain significance (Nov 17, 2023) | ||
17-4558296-G-A | Benign (Dec 31, 2019) | |||
17-4558356-T-G | not specified | Uncertain significance (Aug 30, 2021) | ||
17-4558371-C-T | not specified | Uncertain significance (Nov 21, 2022) | ||
17-4558422-T-C | not specified | Uncertain significance (Feb 06, 2023) | ||
17-4558427-T-C | not specified | Uncertain significance (Jul 11, 2022) | ||
17-4558431-C-T | not specified | Uncertain significance (Feb 16, 2023) | ||
17-4558434-C-T | not specified | Likely benign (Nov 09, 2022) | ||
17-4558470-G-T | not specified | Uncertain significance (Mar 31, 2024) | ||
17-4558478-G-A | not specified | Uncertain significance (Mar 16, 2024) | ||
17-4558489-G-T | not specified | Uncertain significance (Feb 16, 2023) | ||
17-4558497-T-G | not specified | Uncertain significance (Apr 23, 2024) | ||
17-4558503-C-T | not specified | Uncertain significance (Dec 28, 2023) | ||
17-4558512-G-A | not specified | Uncertain significance (May 30, 2023) | ||
17-4558517-G-A | not specified | Uncertain significance (Jul 19, 2023) | ||
17-4558542-C-G | not specified | Uncertain significance (Nov 20, 2023) | ||
17-4558544-G-C | not specified | Uncertain significance (Nov 08, 2022) | ||
17-4558566-T-G | not specified | Uncertain significance (Jun 11, 2021) | ||
17-4558608-G-T | not specified | Uncertain significance (Jan 20, 2023) | ||
17-4558634-G-A | not specified | Uncertain significance (Aug 08, 2023) | ||
17-4558650-C-A | not specified | Uncertain significance (Aug 04, 2023) | ||
17-4558662-C-T | not specified | Uncertain significance (Mar 25, 2024) | ||
17-4558664-A-G | not specified | Uncertain significance (Feb 05, 2024) | ||
17-4558665-G-T | not specified | Uncertain significance (Jan 20, 2023) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
GGT6 | protein_coding | protein_coding | ENST00000574154 | 4 | 3892 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
2.98e-8 | 0.175 | 125704 | 0 | 38 | 125742 | 0.000151 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 0.321 | 264 | 279 | 0.946 | 0.0000163 | 3028 |
Missense in Polyphen | 67 | 75.449 | 0.88802 | 932 | ||
Synonymous | -0.326 | 139 | 134 | 1.04 | 0.00000834 | 1183 |
Loss of Function | 0.204 | 12 | 12.8 | 0.939 | 7.11e-7 | 129 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000425 | 0.000423 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.00 | 0.00 |
Finnish | 0.00 | 0.00 |
European (Non-Finnish) | 0.000259 | 0.000255 |
Middle Eastern | 0.00 | 0.00 |
South Asian | 0.00 | 0.00 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Cleaves glutathione conjugates. {ECO:0000250}.;
- Pathway
- Glutathione metabolism - Homo sapiens (human);Taurine and hypotaurine metabolism - Homo sapiens (human);Gamma-glutamyl-transpeptidase deficiency;5-oxoprolinase deficiency;Gamma-Glutamyltransferase Deficiency;Glutathione Metabolism;Glutathione Synthetase Deficiency;Taurine and Hypotaurine Metabolism;5-Oxoprolinuria;Glutathione conjugation;Phase II - Conjugation of compounds;Biological oxidations;Metabolism;Glutathione synthesis and recycling;Aflatoxin activation and detoxification
(Consensus)
Intolerance Scores
- loftool
- 0.825
- rvis_EVS
- 0.51
- rvis_percentile_EVS
- 80.24
Haploinsufficiency Scores
- pHI
- 0.103
- hipred
- N
- hipred_score
- 0.123
- ghis
- 0.417
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.0103
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Ggt6
- Phenotype
Gene ontology
- Biological process
- proteolysis;glutathione biosynthetic process;glutathione catabolic process;biological_process;leukotriene D4 biosynthetic process
- Cellular component
- integral component of membrane;extracellular exosome
- Molecular function
- molecular_function;glutathione hydrolase activity;hypoglycin A gamma-glutamyl transpeptidase activity;leukotriene C4 gamma-glutamyl transferase activity