UGT1A5

UDP glucuronosyltransferase family 1 member A5, the group of UDP glucuronosyltransferases

Basic information

Region (hg38): 2:233712906-233773300

Links

ENSG00000288705 ∙ NCBI:54579 ∙ OMIM:606430 ∙ HGNC:12537 ∙ Uniprot:P35504 ∙ 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 UGT1A5 gene.

• not provided (220 variants)
• Gilbert syndrome (60 variants)
• Inborn genetic diseases (49 variants)
• Crigler-Najjar syndrome (49 variants)
• Lucey-Driscoll syndrome (45 variants)
• UGT1A1-related condition (20 variants)
• Crigler-Najjar syndrome, type II (17 variants)
• Hyperbilirubinemia (16 variants)
• not specified (14 variants)
• Crigler-Najjar syndrome type 1 (14 variants)
• Irinotecan response (5 variants)
• UGT1A1-Related Disorders (4 variants)
• Bilirubin, serum level of, quantitative trait locus 1 (2 variants)
• Gilbert syndrome;Crigler-Najjar syndrome type 1;Crigler-Najjar syndrome, type II;Bilirubin, serum level of, quantitative trait locus 1;Lucey-Driscoll syndrome (2 variants)
• Bilirubin, serum level of, quantitative trait locus 1;Crigler-Najjar syndrome type 1;Lucey-Driscoll syndrome;Crigler-Najjar syndrome, type II;Gilbert syndrome (2 variants)
• irinotecan response - Toxicity (1 variants)
• UGT1A1-related disorder (1 variants)
• Lucey-Driscoll syndrome;Crigler-Najjar syndrome, type II;Gilbert syndrome;Crigler-Najjar syndrome type 1;Bilirubin, serum level of, quantitative trait locus 1 (1 variants)
• Bilirubin, serum level of, quantitative trait locus 1;Crigler-Najjar syndrome type 1;Crigler-Najjar syndrome, type II;Lucey-Driscoll syndrome;Gilbert syndrome (1 variants)
• Crigler-Najjar syndrome, type II;Lucey-Driscoll syndrome;Crigler-Najjar syndrome type 1;Bilirubin, serum level of, quantitative trait locus 1;Gilbert syndrome (1 variants)
• Gilbert syndrome, susceptibility to (1 variants)
• Bilirubin, serum level of, quantitative trait locus 1;Lucey-Driscoll syndrome;Crigler-Najjar syndrome, type II;Gilbert syndrome;Crigler-Najjar syndrome type 1 (1 variants)
• Lucey-Driscoll syndrome;Crigler-Najjar syndrome, type II;Bilirubin, serum level of, quantitative trait locus 1;Gilbert syndrome;Crigler-Najjar syndrome type 1 (1 variants)
• Crigler-Najjar syndrome type 1;Gilbert syndrome;Crigler-Najjar syndrome, type II;Lucey-Driscoll syndrome (1 variants)
• Crigler-Najjar syndrome, type II;Gilbert syndrome;Lucey-Driscoll syndrome;Crigler-Najjar syndrome type 1;Bilirubin, serum level of, quantitative trait locus 1 (1 variants)
• Gilbert syndrome;Bilirubin, serum level of, quantitative trait locus 1;Crigler-Najjar syndrome type 1;Lucey-Driscoll syndrome;Crigler-Najjar syndrome, type II (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the UGT1A5 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			7	10	2	19
missense	3	8	61		3	75
nonsense	4		2			6
start loss						0
frameshift	4			1		5
inframe indel			2			2
splice donor/acceptor (+/-2bp)	1	3				4
splice region			2	1		3
non coding	15	10	106	24	13	168
Total	27	21	178	35	18

Highest pathogenic variant AF is 0.0000919

Variants in UGT1A5

This is a list of pathogenic ClinVar variants found in the UGT1A5 region.

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

Position	Type	Phenotype	Significance	ClinVar
2-233713004-C-A		not specified	Uncertain significance (Aug 12, 2021)
2-233713014-C-T		not specified	Uncertain significance (Aug 04, 2023)
2-233713125-G-A		not specified	Uncertain significance (May 10, 2022)
2-233713151-A-G		not specified	Uncertain significance (Mar 14, 2023)
2-233713252-C-T			Likely benign (Mar 28, 2018)
2-233713371-C-G		not specified	Uncertain significance (Apr 26, 2023)
2-233713391-A-G		not specified	Uncertain significance (Feb 12, 2024)
2-233713487-T-C		not specified	Uncertain significance (Dec 13, 2022)
2-233713511-A-G		not specified	Uncertain significance (May 18, 2023)
2-233713685-GC-G			Likely benign (Jan 01, 2018)
2-233713711-G-C		not specified	Uncertain significance (Mar 24, 2023)
2-233713733-C-A			Benign (Jun 08, 2018)
2-233713736-G-C			Benign (Jun 08, 2018)
2-233713764-G-A		not specified	Uncertain significance (Sep 12, 2023)
2-233713766-G-C			Benign (Feb 26, 2021)
2-233713774-T-C			Benign (Jun 08, 2018)
2-233713840-C-T			Benign (Jun 08, 2018)
2-233718617-G-A		not specified	Uncertain significance (Dec 31, 2014)
2-233718831-G-A		not specified	Uncertain significance (May 26, 2023)
2-233718852-G-A		not specified	Likely benign (Mar 01, 2023)
2-233718862-A-G			Likely benign (Mar 01, 2023)
2-233718864-G-T		not specified	Uncertain significance (Feb 05, 2024)
2-233718873-T-A		not specified	Uncertain significance (Dec 27, 2022)
2-233718885-T-C		not specified	Uncertain significance (Jan 04, 2024)
2-233718960-C-T		not specified	Likely benign (Nov 07, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP