ClinVar Genomic variation as it relates to human health
NM_000463.3(UGT1A1):c.686C>A (p.Pro229Gln)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
Pathogenic(2); Uncertain significance(3); Benign(1)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_000463.3(UGT1A1):c.686C>A (p.Pro229Gln)
Variation ID: 12274 Accession: VCV000012274.37
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 2q37.1 2: 233760973 (GRCh38) [ NCBI UCSC ] 2: 234669619 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Nov 23, 2014 Mar 16, 2024 Feb 8, 2024 - HGVS
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Nucleotide Protein Molecular
consequenceNM_000463.3:c.686C>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000454.1:p.Pro229Gln missense NM_001072.4:c.862-6061C>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
intron variant NM_007120.3:c.868-6061C>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
intron variant NM_019075.4:c.856-6061C>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
intron variant NM_019076.5:c.856-6061C>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
intron variant NM_019077.3:c.856-6061C>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
intron variant NM_019078.2:c.868-6061C>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
intron variant NM_019093.4:c.868-6061C>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
intron variant NM_021027.3:c.856-6061C>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
intron variant NM_205862.3:c.61-6061C>A intron variant NC_000002.12:g.233760973C>A NC_000002.11:g.234669619C>A NG_002601.2:g.176230C>A NG_033238.1:g.5701C>A LRG_733:g.5701C>A LRG_733t1:c.686C>A LRG_733p1:p.Pro229Gln P22309:p.Pro229Gln - Protein change
- P229Q
- Other names
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- Canonical SPDI
- NC_000002.12:233760972:C:A
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
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0.00280 (A)
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
Trans-Omics for Precision Medicine (TOPMed) 0.00142
1000 Genomes Project 30x 0.00250
1000 Genomes Project 0.00280
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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HI score
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The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
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UGT1A | - | - | - | GRCh38 | - | 502 |
UGT1A1 | - | - |
GRCh38 GRCh37 |
1 | 350 | |
UGT1A10 | - | - |
GRCh38 GRCh37 |
- | 519 | |
UGT1A3 | - | - |
GRCh38 GRCh37 |
- | 374 | |
UGT1A4 | - | - |
GRCh38 GRCh37 |
- | 391 | |
UGT1A5 | - | - |
GRCh38 GRCh37 |
- | 407 | |
UGT1A6 | - | - |
GRCh38 GRCh37 |
- | 443 | |
UGT1A7 | - | - |
GRCh38 GRCh37 |
- | 486 | |
UGT1A8 | - | - |
GRCh38 GRCh37 |
1 | 535 | |
UGT1A9 | - | - |
GRCh38 GRCh37 |
- | 506 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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Pathogenic; Affects (2) |
no assertion criteria provided
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May 1, 2019 | RCV000013062.35 | |
Pathogenic (1) |
no assertion criteria provided
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Dec 1, 2007 | RCV000013063.33 | |
Conflicting interpretations of pathogenicity (2) |
criteria provided, conflicting classifications
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Jun 19, 2020 | RCV000147905.21 | |
Conflicting interpretations of pathogenicity; other (4) |
criteria provided, conflicting classifications
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Jan 18, 2024 | RCV000299521.32 | |
Uncertain significance (1) |
criteria provided, single submitter
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Feb 8, 2024 | RCV003390674.5 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Benign
(Feb 08, 2013)
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criteria provided, single submitter
Method: clinical testing
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not specified
(Autosomal recessive inheritance)
Affected status: unknown
Allele origin:
germline
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Genetic Services Laboratory, University of Chicago
Accession: SCV000195396.1
First in ClinVar: Nov 23, 2014 Last updated: Nov 23, 2014 |
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Uncertain significance
(Jun 19, 2020)
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criteria provided, single submitter
Method: clinical testing
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not specified
Affected status: unknown
Allele origin:
germline
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Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
Accession: SCV001653054.1
First in ClinVar: May 29, 2021 Last updated: May 29, 2021 |
Comment:
The p.Pro229Gln variant in UGT1A1 has been reported in the heterogygous and compound heterozygous state in numerous individuals with Gilbert syndrome or Crigler-Najjar syndrome type … (more)
The p.Pro229Gln variant in UGT1A1 has been reported in the heterogygous and compound heterozygous state in numerous individuals with Gilbert syndrome or Crigler-Najjar syndrome type II , however, most of them were also homozygous for other pathogenic variants in the gene. This variant has also been reported in ClinVar (Variation ID 12274). It has been identified in 1.9% (389/19954) of East Asian chromosomes by gnomAD (https://gnomad.broadinstitute.org/). Computational prediction tools and conservation analysis suggest that this variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. In vitro functional studies provide some evidence that this variant impacts protein function (Gagne 2002 PMID: 12181437, Udomuksorn 2007 PMID: 18004206); however, these types of assays may not accurately represent biological function. In summary, the clinical significance of this variant is uncertain. ACMG/AMP Criteria applied: PS3_Supporting, BS1_Supporting, BP4. (less)
Number of individuals with the variant: 1
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Pathogenic
(Jul 09, 2020)
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criteria provided, single submitter
Method: clinical testing
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Not provided
Affected status: unknown
Allele origin:
germline
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Mayo Clinic Laboratories, Mayo Clinic
Accession: SCV001714674.1
First in ClinVar: Jun 15, 2021 Last updated: Jun 15, 2021 |
Number of individuals with the variant: 1
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Uncertain significance
(Jan 18, 2024)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
germline
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Invitae
Accession: SCV001111446.5
First in ClinVar: Dec 17, 2019 Last updated: Feb 20, 2024 |
Comment:
This sequence change replaces proline, which is neutral and non-polar, with glutamine, which is neutral and polar, at codon 229 of the UGT1A1 protein (p.Pro229Gln). … (more)
This sequence change replaces proline, which is neutral and non-polar, with glutamine, which is neutral and polar, at codon 229 of the UGT1A1 protein (p.Pro229Gln). This variant is present in population databases (rs35350960, gnomAD 2.0%), and has an allele count higher than expected for a pathogenic variant. This variant has been observed in individual(s) with Gilbert disease (PMID: 7715297, 8528206, 14616765). This variant is frequently observed to be in cis with the c.-41_-40dup (aka UGT1A1*28 or (TA)7) variant (PMID: 11316168, 19325249, 15304120) This variant is also known as UGT1A1*27. ClinVar contains an entry for this variant (Variation ID: 12274). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt UGT1A1 protein function with a negative predictive value of 80%. Experimental studies have shown that this missense change affects UGT1A1 function (PMID: 8528206, 18004206). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. (less)
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Pathogenic
(Oct 26, 2023)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
germline
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ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV001156826.5
First in ClinVar: Feb 10, 2020 Last updated: Feb 20, 2024 |
Comment:
The UGT1A1 c.686C>A, p.Pro229Gln variant (rs35350960; ClinVar Variation ID: 12274), also known as the UGT1A1*27 allele (Mackenzie 1997), is reported in the literature in individuals … (more)
The UGT1A1 c.686C>A, p.Pro229Gln variant (rs35350960; ClinVar Variation ID: 12274), also known as the UGT1A1*27 allele (Mackenzie 1997), is reported in the literature in individuals of East Asian descent affected with Gilbert syndrome, almost always with one or two copies of the pathogenic-mild UGT1A1 *28 promoter variant (Huang 2000, Koiwai 1995, Maruo 2003, Sai 2004, Sun 2017). Functional analyses of the p.Pro229Gln variant protein showed markedly reduced enzyme activity (Koiwai 1995, Udomuksorn 2007). Individuals heterozygous for the UGT1A1*27 allele may also be at increased risk for drug toxicity when treated with irinotecan (Ando 2000, Teh 2012). This variant is found predominantly in the East Asian population with an overall allele frequency of 1.9% (389/19954 alleles, including three homozygotes) in the Genome Aggregation Database. The proline at codon 229 is highly conserved, but computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.32). Based on available information, this variant is considered to be mildly pathogenic for Gilbert syndrome with reduced penetrance. References: Ando Y et al. Polymorphisms of UDP-glucuronosyltransferase gene and irinotecan toxicity: a pharmacogenetic analysis. Cancer Res. 2000 60:6921-6926. PMID: 11156391 Huang CS et al. Variations of the bilirubin uridine-diphosphoglucuronosyl transferase 1A1 gene in healthy Taiwanese. Pharmacogenetics. 2000 10:539-544. PMID: 10975608 Kaniwa N et al. Racial variability in haplotype frequencies of UGT1A1 and glucuronidation activity of a novel single nucleotide polymorphism 686C> T (P229L) found in an African-American. Drug Metab Dispos. 2005 33:458-465. PMID: 15572581 Koiwai O et al. Gilbert's syndrome is caused by a heterozygous missense mutation in the gene for bilirubin UDP-glucuronosyltransferase. Hum Mol Genet. 1995 4:1183-1186. PMID: 8528206 Mackenzie PI et al. The UDP glycosyltransferase gene superfamily: recommended nomenclature update based on evolutionary divergence. Pharmacogenetics. 1997 7:255-269. PMID: 9295054 Maruo Y et al. Co-occurrence of three different mutations in the bilirubin UDP-glucuronosyltransferase gene in a Chinese family with Crigler-Najjar syndrome type I and Gilbert's syndrome. Clin Genet. 2003 64:420-423. PMID: 14616765 Sai K et al. UGT1A1 haplotypes associated with reduced glucuronidation and increased serum bilirubin in irinotecan-administered Japanese patients with cancer. Clin Pharmacol Ther. 2004 75:501-515. PMID: 15179405 Sun L et al. Differences in UGT1A1 gene mutations and pathological liver changes between Chinese patients with Gilbert syndrome and Crigler-Najjar syndrome type II. Medicine (Baltimore). 2017 96:e8620. PMID: 29137095 Teh LK et al. Polymorphisms of UGT1A1*6, UGT1A1*27 & UGT1A1*28 in three major ethnic groups from Malaysia. Indian J Med Res. 2012 136:249-259. PMID: 22960892 Udomuksorn W et al. Influence of mutations associated with Gilbert and Crigler-Najjar type II syndromes on the glucuronidation kinetics of bilirubin and other UDP-glucuronosyltransferase 1A substrates. Pharmacogenet Genomics. 2007 17:1017-1029. PMID: 18004206 (less)
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Uncertain significance
(Feb 08, 2024)
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criteria provided, single submitter
Method: clinical testing
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UGT1A1-related condition
Affected status: unknown
Allele origin:
germline
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PreventionGenetics, part of Exact Sciences
Accession: SCV004120217.2
First in ClinVar: Nov 20, 2023 Last updated: Mar 16, 2024 |
Comment:
The UGT1A1 c.686C>A variant is predicted to result in the amino acid substitution p.Pro229Gln. The minor allele frequency of this variant is over 1% in … (more)
The UGT1A1 c.686C>A variant is predicted to result in the amino acid substitution p.Pro229Gln. The minor allele frequency of this variant is over 1% in the East Asian sub-population, including 3 homozygotes, indicating this variant may be too common to be a primary cause of a Mendelian disease. However, an in vitro study indicated this variant caused a reduction in the activity of bilirubin UDP-glucuronosyltransferase (UGT) (Koiwai et al. 1995. PubMed ID: 8528206). The contribution of this variant to disease remains under debate (Kaniwa et al. 2005. PubMed ID: 15572581; Zhang et al. 2007. PubMed ID: 17060921; Wisnumurti et al. 2018. PubMed ID: 29607327), and classifications for this variant from outside laboratories range from benign to pathogenic (https://0-www-ncbi-nlm-nih-gov.brum.beds.ac.uk/clinvar/variation/12274/). Therefore, we classify c.686C>A (p.Pro229Gln) as a variant of uncertain significance. (less)
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other
(Sep 17, 2018)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
germline
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Eurofins Ntd Llc (ga)
Accession: SCV000344304.3
First in ClinVar: Dec 06, 2016 Last updated: Dec 15, 2018 |
Number of individuals with the variant: 15
Sex: mixed
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Affects
(Dec 01, 2007)
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no assertion criteria provided
Method: literature only
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GILBERT SYNDROME
Affected status: not provided
Allele origin:
germline
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OMIM
Accession: SCV000033308.2
First in ClinVar: Apr 04, 2013 Last updated: Dec 15, 2017 |
Comment on evidence:
This variant has been designated UGT1A1*27 (Mackenzie et al., 1997). In affected members of 2 presumably unrelated Japanese families with Gilbert syndrome (143500), Koiwai et … (more)
This variant has been designated UGT1A1*27 (Mackenzie et al., 1997). In affected members of 2 presumably unrelated Japanese families with Gilbert syndrome (143500), Koiwai et al. (1995) identified a heterozygous 686C-A transversion in the UGT1A gene, resulting in a pro229-to-gln (P229Q) substitution. Expression studies in COS cells demonstrated approximately 14% of normal UGT activity, whereas enzymatic activity in the patient was approximately 30% of normal, suggesting a dominant-negative effect. Since, according to Peters et al. (1984), UGT exists as a tetramer on the luminal surface of the endoplasmic reticulum, the reduced level of UGT activity in the patient with Gilbert syndrome may be explained by the random formation of complexes of mutated UGT subunits and normally active UGT subunits on the endoplasmic reticulum. In a patient with Crigler-Najjar syndrome type II (606785), Yamamoto et al. (1998) identified a complex genotype consisting of heterozygosity for the P229Q mutation and homozygosity for a 2-bp insertion mutation (191740.0011). Udomuksorn et al. (2007) found that the P229Q mutant protein reduced the in vitro clearance for total bilirubin glucuronidation by 70% by increasing Km and decreasing Vmax. The magnitude of decreases in clearance for other substrates varied according to substrate. (less)
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Pathogenic
(Dec 01, 2007)
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no assertion criteria provided
Method: literature only
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CRIGLER-NAJJAR SYNDROME, TYPE II
Affected status: not provided
Allele origin:
germline
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OMIM
Accession: SCV000033309.2
First in ClinVar: Apr 04, 2013 Last updated: Dec 15, 2017 |
Comment on evidence:
This variant has been designated UGT1A1*27 (Mackenzie et al., 1997). In affected members of 2 presumably unrelated Japanese families with Gilbert syndrome (143500), Koiwai et … (more)
This variant has been designated UGT1A1*27 (Mackenzie et al., 1997). In affected members of 2 presumably unrelated Japanese families with Gilbert syndrome (143500), Koiwai et al. (1995) identified a heterozygous 686C-A transversion in the UGT1A gene, resulting in a pro229-to-gln (P229Q) substitution. Expression studies in COS cells demonstrated approximately 14% of normal UGT activity, whereas enzymatic activity in the patient was approximately 30% of normal, suggesting a dominant-negative effect. Since, according to Peters et al. (1984), UGT exists as a tetramer on the luminal surface of the endoplasmic reticulum, the reduced level of UGT activity in the patient with Gilbert syndrome may be explained by the random formation of complexes of mutated UGT subunits and normally active UGT subunits on the endoplasmic reticulum. In a patient with Crigler-Najjar syndrome type II (606785), Yamamoto et al. (1998) identified a complex genotype consisting of heterozygosity for the P229Q mutation and homozygosity for a 2-bp insertion mutation (191740.0011). Udomuksorn et al. (2007) found that the P229Q mutant protein reduced the in vitro clearance for total bilirubin glucuronidation by 70% by increasing Km and decreasing Vmax. The magnitude of decreases in clearance for other substrates varied according to substrate. (less)
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Pathogenic
(May 01, 2019)
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no assertion criteria provided
Method: case-control
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Gilbert syndrome
Affected status: unknown
Allele origin:
inherited
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Difficult and Complicated Liver Diseases and Artificial Liver Center, Beijing You An Hospital, Capital Medical University
Accession: SCV001156254.1
First in ClinVar: Feb 10, 2020 Last updated: Feb 10, 2020 |
Number of individuals with the variant: 13
Age: 25-55 years
Sex: mixed
Ethnicity/Population group: Chinese
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Germline Functional Evidence
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
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Analysis of the UGT1A1 Genotype in Hyperbilirubinemia Patients: Differences in Allele Frequency and Distribution. | Mi XX | BioMed research international | 2019 | PMID: 31467903 |
UGT1A1 genotypes and unconjugated hyperbilirubinemia phenotypes in post-neonatal Chinese children: A retrospective analysis and quantitative correlation. | Abuduxikuer K | Medicine | 2018 | PMID: 30544479 |
Differences in UGT1A1 gene mutations and pathological liver changes between Chinese patients with Gilbert syndrome and Crigler-Najjar syndrome type II. | Sun L | Medicine | 2017 | PMID: 29137095 |
UGT1A1 sequence variants associated with risk of adult hyperbilirubinemia: a quantitative analysis. | Chen Z | Gene | 2014 | PMID: 25200497 |
Mutation Analysis in Crigler-Najjar Syndrome Type II-Case Report and Literature Review. | Ranjan P | Journal of clinical and experimental hepatology | 2011 | PMID: 25755387 |
Influence of mutations associated with Gilbert and Crigler-Najjar type II syndromes on the glucuronidation kinetics of bilirubin and other UDP-glucuronosyltransferase 1A substrates. | Udomuksorn W | Pharmacogenetics and genomics | 2007 | PMID: 18004206 |
Genetic polymorphisms of bilirubin uridine diphosphate-glucuronosyltransferase gene in Japanese patients with Crigler-Najjar syndrome or Gilbert's syndrome as well as in healthy Japanese subjects. | Takeuchi K | Journal of gastroenterology and hepatology | 2004 | PMID: 15304120 |
Co-occurrence of three different mutations in the bilirubin UDP-glucuronosyltransferase gene in a Chinese family with Crigler-Najjar syndrome type I and Gilbert's syndrome. | Maruo Y | Clinical genetics | 2003 | PMID: 14616765 |
Common human UGT1A polymorphisms and the altered metabolism of irinotecan active metabolite 7-ethyl-10-hydroxycamptothecin (SN-38). | Gagné JF | Molecular pharmacology | 2002 | PMID: 12181437 |
Correlation of mutational analysis to clinical features in Taiwanese patients with Gilbert's syndrome. | Hsieh SY | The American journal of gastroenterology | 2001 | PMID: 11316168 |
Analysis of bilirubin uridine 5'-diphosphate (UDP)-glucuronosyltransferase gene mutations in seven patients with Crigler-Najjar syndrome type II. | Yamamoto K | Journal of human genetics | 1998 | PMID: 9621515 |
Gilbert's syndrome is caused by a heterozygous missense mutation in the gene for bilirubin UDP-glucuronosyltransferase. | Koiwai O | Human molecular genetics | 1995 | PMID: 8528206 |
Analysis of genes for bilirubin UDP-glucuronosyltransferase in Gilbert's syndrome. | Aono S | Lancet (London, England) | 1995 | PMID: 7715297 |
The cDNA sequence and expression of a variant 17 beta-hydroxysteroid UDP-glucuronosyltransferase. | Mackenzie PI | The Journal of biological chemistry | 1990 | PMID: 1692835 |
The molecular weights of UDP-glucuronyltransferase determined with radiation-inactivation analysis. A molecular model of bilirubin UDP-glucuronyltransferase. | Peters WH | The Journal of biological chemistry | 1984 | PMID: 6480579 |
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=UGT1A1 | - | - | - | - |
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Text-mined citations for rs35350960 ...
HelpRecord last updated Mar 17, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.