GSTA5

glutathione S-transferase alpha 5, the group of Soluble glutathione S-transferases

Basic information

Region (hg38): 6:52831654-52840843

Links

ENSG00000182793 ∙ NCBI:221357 ∙ OMIM:607605 ∙ HGNC:19662 ∙ Uniprot:Q7RTV2 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the GSTA5 gene.

• Inborn genetic diseases (9 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GSTA5 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			8	1		9
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	8	1	0

Variants in GSTA5

This is a list of pathogenic ClinVar variants found in the GSTA5 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
6-52831918-G-C		not specified	Uncertain significance (Nov 03, 2023)
6-52831942-G-A		not specified	Uncertain significance (Sep 16, 2021)
6-52832861-T-C		not specified	Uncertain significance (Sep 20, 2023)
6-52832928-G-C		not specified	Uncertain significance (Nov 30, 2022)
6-52832942-A-G		not specified	Likely benign (Nov 30, 2022)
6-52832956-C-A		not specified	Uncertain significance (Oct 06, 2021)
6-52832970-T-G		not specified	Uncertain significance (Nov 21, 2022)
6-52834191-C-G		not specified	Uncertain significance (Oct 26, 2021)
6-52834203-C-G		not specified	Uncertain significance (Oct 25, 2023)
6-52836289-G-T		not specified	Uncertain significance (Jan 04, 2024)
6-52836305-G-T		not specified	Uncertain significance (Feb 22, 2023)
6-52836339-T-C		not specified	Uncertain significance (May 23, 2023)
6-52840756-G-A		not specified	Uncertain significance (Jan 04, 2024)
6-52840759-T-A		not specified	Uncertain significance (Dec 01, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
GSTA5	protein_coding	protein_coding	ENST00000370989	6	14441

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.80e-11	0.00888	125243	1	504	125748	0.00201

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.36	158	117	1.36	0.00000571	1467
Missense in Polyphen		54	37.135	1.4541		538
Synonymous	-1.00	50	41.7	1.20	0.00000215	398
Loss of Function	-1.26	14	9.76	1.43	4.08e-7	132

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00936	0.00938
Ashkenazi Jewish	0.00169	0.00169
East Asian	0.00353	0.00349
Finnish	0.000139	0.000139
European (Non-Finnish)	0.00163	0.00163
Middle Eastern	0.00353	0.00349
South Asian	0.000359	0.000359
Other	0.00229	0.00228

dbNSFP

Source: dbNSFP

• Pathway: Glutathione metabolism - Homo sapiens (human);Hepatocellular carcinoma - Homo sapiens (human);Fluid shear stress and atherosclerosis - Homo sapiens (human);Metabolism of xenobiotics by cytochrome P450 - Homo sapiens (human);Drug metabolism - other enzymes - Homo sapiens (human);Drug metabolism - cytochrome P450 - Homo sapiens (human);Chemical carcinogenesis - Homo sapiens (human);Pathways in cancer - Homo sapiens (human);Glutathione metabolism;Nuclear Receptors Meta-Pathway;NRF2 pathway;Metapathway biotransformation Phase I and II;Glutathione conjugation;Phase II - Conjugation of compounds;glutathione-mediated detoxification;Biological oxidations;Metabolism;4-hydroxy-2-nonenal detoxification (Consensus)

Recessive Scores

• pRec: 0.0986

Intolerance Scores

• loftool: 0.849
• rvis_EVS: 0.62
• rvis_percentile_EVS: 83.14

Haploinsufficiency Scores

• pHI: 0.0463
• hipred: N
• hipred_score: 0.112

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.00532

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Gsta2

Gene ontology

• Biological process: glutathione metabolic process
• Cellular component: cytosol;extracellular exosome
• Molecular function: glutathione transferase activity