ClinVar Genomic variation as it relates to human health
NM_000463.3(UGT1A1):c.1456T>G (p.Tyr486Asp)
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.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_000463.3(UGT1A1):c.1456T>G (p.Tyr486Asp)
Variation ID: 12281 Accession: VCV000012281.29
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 2q37.1 2: 233772413 (GRCh38) [ NCBI UCSC ] 2: 234681059 (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 Dec 7, 2023 - HGVS
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Nucleotide Protein Molecular
consequenceNM_000463.3:c.1456T>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000454.1:p.Tyr486Asp missense NM_001072.4:c.1453T>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001063.2:p.Tyr485Asp missense NM_007120.3:c.1459T>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009051.1:p.Tyr487Asp missense NM_019075.4:c.1447T>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_061948.1:p.Tyr483Asp missense NM_019076.5:c.1447T>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_061949.3:p.Tyr483Asp missense NM_019077.3:c.1447T>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_061950.2:p.Tyr483Asp missense NM_019078.2:c.1459T>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_061951.1:p.Tyr487Asp missense NM_019093.4:c.1459T>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_061966.1:p.Tyr487Asp missense NM_021027.3:c.1447T>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_066307.1:p.Tyr483Asp missense NM_000463.2:c.[1456T>G] NM_205862.3:c.652T>G NP_995584.1:p.Tyr218Asp missense NC_000002.12:g.233772413T>G NC_000002.11:g.234681059T>G NG_002601.2:g.187670T>G NG_033238.1:g.17141T>G NG_051337.1:g.1752T>G LRG_733:g.17141T>G LRG_733t1:c.1456T>G LRG_733p1:p.Tyr486Asp P22309:p.Tyr486Asp - Protein change
- Y486D, Y218D, Y483D, Y485D, Y487D
- Other names
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- Canonical SPDI
- NC_000002.12:233772412:T:G
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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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0.00080 (G)
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
The Genome Aggregation Database (gnomAD) 0.00016
Trans-Omics for Precision Medicine (TOPMed) 0.00019
The Genome Aggregation Database (gnomAD), exomes 0.00022
1000 Genomes Project 30x 0.00078
1000 Genomes Project 0.00080
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
Help
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 | - | 503 |
UGT1A1 | - | - |
GRCh38 GRCh37 |
1 | 349 | |
UGT1A10 | - | - |
GRCh38 GRCh37 |
- | 516 | |
UGT1A3 | - | - |
GRCh38 GRCh37 |
- | 371 | |
UGT1A4 | - | - |
GRCh38 GRCh37 |
- | 388 | |
UGT1A5 | - | - |
GRCh38 GRCh37 |
- | 404 | |
UGT1A6 | - | - |
GRCh38 GRCh37 |
- | 440 | |
UGT1A7 | - | - |
GRCh38 GRCh37 |
- | 483 | |
UGT1A8 | - | - |
GRCh38 GRCh37 |
- | 531 | |
UGT1A9 | - | - |
GRCh38 GRCh37 |
- | 503 |
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 (1) |
no assertion criteria provided
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Dec 1, 2007 | RCV000013073.25 | |
Pathogenic (1) |
criteria provided, single submitter
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Apr 10, 2014 | RCV000147900.13 | |
Pathogenic/Likely pathogenic (4) |
criteria provided, multiple submitters, no conflicts
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Jan 3, 2022 | RCV000013074.35 | |
Likely pathogenic (1) |
criteria provided, single submitter
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Oct 31, 2018 | RCV000763480.10 | |
Pathogenic (1) |
no assertion criteria provided
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May 1, 2019 | RCV000999563.10 | |
Pathogenic (3) |
criteria provided, multiple submitters, no conflicts
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Dec 7, 2023 | RCV001810853.17 | |
Pathogenic (1) |
criteria provided, single submitter
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Dec 6, 2023 | RCV003944818.1 |
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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Pathogenic
(Apr 10, 2014)
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criteria provided, single submitter
Method: clinical testing
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Hyperbilirubinemia
(Autosomal recessive inheritance)
Affected status: yes
Allele origin:
germline
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Genetic Services Laboratory, University of Chicago
Accession: SCV000195391.1
First in ClinVar: Nov 23, 2014 Last updated: Nov 23, 2014 |
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Likely pathogenic
(Oct 31, 2018)
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criteria provided, single submitter
Method: clinical testing
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Gilbert syndrome
Crigler-Najjar syndrome type 1 Lucey-Driscoll syndrome Bilirubin, serum level of, quantitative trait locus 1 Crigler-Najjar syndrome, type II
Affected status: unknown
Allele origin:
unknown
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Fulgent Genetics, Fulgent Genetics
Accession: SCV000894263.1
First in ClinVar: Mar 31, 2019 Last updated: Mar 31, 2019 |
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Pathogenic
(Jul 26, 2019)
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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: SCV001474598.1
First in ClinVar: Jan 26, 2021 Last updated: Jan 26, 2021 |
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Likely pathogenic
(Jun 09, 2020)
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criteria provided, single submitter
Method: clinical testing
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Crigler-Najjar syndrome, type II
(Autosomal recessive inheritance)
Affected status: unknown
Allele origin:
germline
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Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
Accession: SCV001653002.1
First in ClinVar: May 29, 2021 Last updated: May 29, 2021 |
Comment:
The p.Tyr486Asp variant in UGT1A1 (variant also known as UGT1A1*7) has been reported in the homozygous or compound heterogygous state in numerous individuals with Gilbert … (more)
The p.Tyr486Asp variant in UGT1A1 (variant also known as UGT1A1*7) has been reported in the homozygous or compound heterogygous state in numerous individuals with Gilbert syndrome or Crigler-Najjar syndrome type II (Maruo 2000 PMID: 11061796, Kraemer 2002 PMID: 11983459, Takeuchi 2004 PMID: 15304120, Maruo 2016 PMID: 26250421, Sun 2017 PMID 29137095). The majority of p.Tyr486Asp homozygous individuals with Gilbert syndrome or Crigler-Najjar syndrome type II also carry the p.Gly71Arg variant in the heterozygous or homozygous state. This variant has also been reported in ClinVar (Variation ID 12281). It has been identified in 0.1% (36/19954) of East Asian chromosomes by gnomAD (https://gnomad.broadinstitute.org/). Computational prediction tools and conservation analyses suggest that this variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In vitro functional studies provide some evidence that this variant impacts protein function (Takahashi 2008 PMID: 18816295, Gagne 2002 PMID: 12181437, Jinno 2003 PMID: 12485959); however, these types of assays may not accurately represent biological function. In summary, although additional studies are required to fully establish its clinical significance, this variant meets criteria to be classified as likely pathogenic for autosomal recessive Crigler-Najjar syndrome type II. ACMG/AMP Criteria applied: PS3_Moderate, PM2_Supporting, PP3, PM3_Strong. (less)
Number of individuals with the variant: 1
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Pathogenic
(Jul 19, 2022)
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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: SCV004227312.1
First in ClinVar: Jan 06, 2024 Last updated: Jan 06, 2024 |
Comment:
PP3, PP5, PM1, PS3, PS4_moderate
Number of individuals with the variant: 1
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Pathogenic
(Dec 07, 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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Invitae
Accession: SCV002234341.3
First in ClinVar: Mar 28, 2022 Last updated: Feb 14, 2024 |
Comment:
This sequence change replaces tyrosine, which is neutral and polar, with aspartic acid, which is acidic and polar, at codon 486 of the UGT1A1 protein … (more)
This sequence change replaces tyrosine, which is neutral and polar, with aspartic acid, which is acidic and polar, at codon 486 of the UGT1A1 protein (p.Tyr486Asp). This variant is present in population databases (rs34993780, gnomAD 0.2%). This variant has been observed in individual(s) with hyperbilirubinemia. Individuals homozygous for this variant present with Gilbert syndrome or Crigler-Najjar syndrome type II (PMID: 18419642, 22169899, 29137095). This variant is sometimes seen on the same chromosome (in cis) with p.Gly71Arg in some individuals affected with Crigler-Najjar syndrome type II (PMID: 9630669, 21297505, 21319362, 24749086). This variant is also known as UGT1A1*7. ClinVar contains an entry for this variant (Variation ID: 12281). 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 expected to disrupt UGT1A1 protein function with a positive predictive value of 80%. Experimental studies have shown that this missense change affects UGT1A1 function (PMID: 12181437). For these reasons, this variant has been classified as Pathogenic. (less)
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Pathogenic
(Dec 06, 2023)
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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: SCV004764770.1
First in ClinVar: Mar 16, 2024 Last updated: Mar 16, 2024 |
Comment:
The UGT1A1 c.1456T>G variant is predicted to result in the amino acid substitution p.Tyr486Asp. This variant has been reported to be causative for Crigler-Najjar syndrome … (more)
The UGT1A1 c.1456T>G variant is predicted to result in the amino acid substitution p.Tyr486Asp. This variant has been reported to be causative for Crigler-Najjar syndrome or Gilbert syndrome when present in the homozygous state. Functional studies showed that the substitution p.Tyr486Asp dramatically reduced UGT1A1 enzyme activity (see, for example, Aono et al. 1993. PubMed ID: 8280139; Yamamoto et al. 1998. PubMed ID: 9630669; Nakagawa et al. 2012. PubMed ID: 23279026; Gagné et al. 2002. PubMed ID: 12181437). This variant is reported in 0.18% of alleles in individuals of East Asian descent in gnomAD. This variant is interpreted as pathogenic. (less)
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Pathogenic
(Jan 03, 2022)
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criteria provided, single submitter
Method: clinical testing
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Crigler-Najjar syndrome, type II
Affected status: yes
Allele origin:
germline
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3billion
Accession: SCV002058773.1
First in ClinVar: Jan 15, 2022 Last updated: Jan 15, 2022 |
Comment:
Same nucleotide change resulting in same amino acid change has been previously reported as pathogenic/likely pathogenic with strong evidence (ClinVar ID: VCV000012281, PMID:8280139, PS1_S). The … (more)
Same nucleotide change resulting in same amino acid change has been previously reported as pathogenic/likely pathogenic with strong evidence (ClinVar ID: VCV000012281, PMID:8280139, PS1_S). The variant has been reported to be in trans with a pathogenic variant as either compound heterozygous or homozygous in at least one similarly affected unrelated individual (PMID: 25993113, PM3_M). It was co-segregated with Crigler-Najjar syndrome, type II in multiple affected family members (PP1_P). Functional studies provide moderate evidence of the variant having a damaging effect on the gene or gene product(PMID: 18004206, PS3_M). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.894, PP3_P). A missense variant is a common mechanism associated with Crigler-Najjar syndrome (PP2_P). It is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.000216, PM2_M).herefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline. (less)
Clinical Features:
Hyperbilirubinemia (present) , Unconjugated hyperbilirubinemia (present)
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Pathogenic
(-)
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criteria provided, single submitter
Method: clinical testing
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Crigler-Najjar syndrome, type II
Affected status: yes
Allele origin:
germline
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Neuberg Centre For Genomic Medicine, NCGM
Accession: SCV002073196.1
First in ClinVar: Feb 05, 2022 Last updated: Feb 05, 2022 |
Comment:
The p.Tyr486Asp variant in UGT1A1 (NM_000463.3) has been reported in the homozygous or compound heterogygous state in numerous individuals with Gilbert syndrome or Crigler-Najjar syndrome … (more)
The p.Tyr486Asp variant in UGT1A1 (NM_000463.3) has been reported in the homozygous or compound heterogygous state in numerous individuals with Gilbert syndrome or Crigler-Najjar syndrome type II (Maruo et al, 2000). Functional studies have reported a reduction in enzyme activity (Udomuksorn W et al). It has been submitted to ClinVar as a Pathogenic/Likely Pathogenic variant. The p.Y486D variant is observed at a relatively high frequency in 32/18,394 (0.174%) alleles from individuals of East Asian background in gnomAD Exomes and in 3/1,008 (0.2976%) alleles from individuals of East Asian background in 1000 Genomes. The p.Y486D missense variant is predicted to be damaging by both SIFT and PolyPhen2. The tyrosine residue at codon 486 of UGT1A1 is conserved in all mammalian species. The nucleotide c.1456 in UGT1A1 is predicted conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Pathogenic (less)
Clinical Features:
Cerebellar ataxia (present) , Dystonic disorder (present) , Spasticity (present) , Nystagmus (present) , Cerebellar atrophy (present) , Telangiectasia (present) , Reduced tendon reflexes (present)
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Pathogenic
(Dec 01, 2007)
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no assertion criteria provided
Method: literature only
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HYPERBILIRUBINEMIA, TRANSIENT FAMILIAL NEONATAL
Affected status: not provided
Allele origin:
germline
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OMIM
Accession: SCV000033319.2
First in ClinVar: Apr 04, 2013 Last updated: Aug 22, 2016 |
Comment on evidence:
This variant is referred to as UGT1A1*7. In an infant with transient familial neonatal hyperbilirubinemia associated with breastfeeding (237900), Maruo et al. (2000) found a … (more)
This variant is referred to as UGT1A1*7. In an infant with transient familial neonatal hyperbilirubinemia associated with breastfeeding (237900), Maruo et al. (2000) found a heterozygous T-to-G transversion in exon 5 of the UGT1A1 gene, predicting the substitution of an aspartic acid for a tyrosine at amino acid 486 (Y486D). This infant was also heterozygous for the G71R mutation (191740.0016). Udomuksorn et al. (2007) stated that homozygosity for the Y486D mutation is associated with Crigler-Najjar syndrome type II (606785). Udomuksorn et al. (2007) found that the Y486D mutant protein had very low activity for in vitro clearance for total bilirubin glucuronidation. In addition, transfection of the Y486D mutation into UGT1A6 (606431) and UGT1A10 (606435) reduced their activity, indicating that the mutation may alter a common UGT1A active binding site. (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: SCV000033320.2
First in ClinVar: Apr 04, 2013 Last updated: Aug 22, 2016 |
Comment on evidence:
This variant is referred to as UGT1A1*7. In an infant with transient familial neonatal hyperbilirubinemia associated with breastfeeding (237900), Maruo et al. (2000) found a … (more)
This variant is referred to as UGT1A1*7. In an infant with transient familial neonatal hyperbilirubinemia associated with breastfeeding (237900), Maruo et al. (2000) found a heterozygous T-to-G transversion in exon 5 of the UGT1A1 gene, predicting the substitution of an aspartic acid for a tyrosine at amino acid 486 (Y486D). This infant was also heterozygous for the G71R mutation (191740.0016). Udomuksorn et al. (2007) stated that homozygosity for the Y486D mutation is associated with Crigler-Najjar syndrome type II (606785). Udomuksorn et al. (2007) found that the Y486D mutant protein had very low activity for in vitro clearance for total bilirubin glucuronidation. In addition, transfection of the Y486D mutation into UGT1A6 (606431) and UGT1A10 (606435) reduced their activity, indicating that the mutation may alter a common UGT1A active binding site. (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: SCV001156259.1
First in ClinVar: Feb 07, 2020 Last updated: Feb 07, 2020 |
Number of individuals with the variant: 6
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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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 |
Genotype of UGT1A1 and phenotype correlation between Crigler-Najjar syndrome type II and Gilbert syndrome. | Maruo Y | Journal of gastroenterology and hepatology | 2016 | PMID: 26250421 |
Spectrum of UGT1A1 Variations in Chinese Patients with Crigler-Najjar Syndrome Type II. | Li L | PloS one | 2015 | PMID: 25993113 |
Molecular Analysis of the UGT1A1 Gene in Korean Patients with Crigler-Najjar Syndrome Type II. | Ko JS | Pediatric gastroenterology, hepatology & nutrition | 2014 | PMID: 24749086 |
Hereditary spherocytosis coexisting with UDP-glucuronosyltransferase deficiency highly suggestive of Crigler-Najjar syndrome type II. | Iijima S | Yonsei medical journal | 2011 | PMID: 21319362 |
Compound heterozygote of a novel missense mutation (p.K402T) and a double missense mutation (p.[G71R;Y486D]) in type II Crigler-Najjar syndrome. | Maruo Y | Journal of pediatric gastroenterology and nutrition | 2011 | PMID: 21297505 |
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 |
What is Gilbert's syndrome? Lesson from genetic polymorphisms of UGT1A1 in Gilbert's syndrome from Asia. | Kamisako T | Journal of gastroenterology and hepatology | 2004 | PMID: 15304109 |
Glucuronidation of 7-ethyl-10-hydroxycamptothecin (SN-38), an active metabolite of irinotecan (CPT-11), by human UGT1A1 variants, G71R, P229Q, and Y486D. | Jinno H | Drug metabolism and disposition: the biological fate of chemicals | 2003 | PMID: 12485959 |
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 |
Crigler-Najjar syndrome type II in a caucasian patient resulting from two mutations in the bilirubin uridine 5'-diphosphate-glucuronosyltransferase (UGT1A1) gene. | Kraemer D | Journal of hepatology | 2002 | PMID: 11983459 |
Prolonged unconjugated hyperbilirubinemia associated with breast milk and mutations of the bilirubin uridine diphosphate- glucuronosyltransferase gene. | Maruo Y | Pediatrics | 2000 | PMID: 11061796 |
Contribution of two missense mutations (G71R and Y486D) of the bilirubin UDP glycosyltransferase (UGT1A1) gene to phenotypes of Gilbert's syndrome and Crigler-Najjar syndrome type II. | Yamamoto K | Biochimica et biophysica acta | 1998 | PMID: 9630669 |
Identification of defect in the genes for bilirubin UDP-glucuronosyl-transferase in a patient with Crigler-Najjar syndrome type II. | Aono S | Biochemical and biophysical research communications | 1993 | PMID: 8280139 |
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Text-mined citations for rs34993780 ...
HelpRecord last updated Apr 15, 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.