NM_000463.2(UGT1A1):c.1021C>T (p.Arg341Ter) AND Gilbert's syndrome

This record was updated by the submitter. Please see the current version.

Germline classification:: Affects (1 submission)
Last evaluated:: Nov 1, 2003
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000013057.25

Allele description

NM_000463.2(UGT1A1):c.1021C>T (p.Arg341Ter)

Genes:

UGT1A:UDP glucuronosyltransferase family 1 member A complex locus [Gene - HGNC]
UGT1A10:UDP glucuronosyltransferase family 1 member A10 [Gene - OMIM - HGNC]
UGT1A1:UDP glucuronosyltransferase family 1 member A1 [Gene - OMIM - HGNC]
UGT1A3:UDP glucuronosyltransferase family 1 member A3 [Gene - OMIM - HGNC]
UGT1A4:UDP glucuronosyltransferase family 1 member A4 [Gene - OMIM - HGNC]
UGT1A5:UDP glucuronosyltransferase family 1 member A5 [Gene - OMIM - HGNC]
UGT1A6:UDP glucuronosyltransferase family 1 member A6 [Gene - OMIM - HGNC]
UGT1A7:UDP glucuronosyltransferase family 1 member A7 [Gene - OMIM - HGNC]
UGT1A8:UDP glucuronosyltransferase family 1 member A8 [Gene - OMIM - HGNC]
UGT1A9:UDP glucuronosyltransferase family 1 member A9 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q37.1

Genomic location:

Preferred name:

NM_000463.2(UGT1A1):c.1021C>T (p.Arg341Ter)

Other names:

UGT1A1*10; 1021(C>T)

HGVS:

NC_000002.12:g.233767873C>T
NG_002601.2:g.183130C>T
NG_009254.1:g.12601C>T
NG_033238.1:g.12601C>T
NM_000463.2:c.1021C>T
NP_000454.1:p.Arg341Ter
LRG_733t1:c.1021C>T
LRG_733:g.12601C>T
LRG_733p1:p.Arg341Ter
NC_000002.11:g.234676519C>T

Protein change:

R338*; ARG341TER

Links:

OMIM: 191740.0004; dbSNP: rs72551349

NCBI 1000 Genomes Browser:

rs72551349

Allele Frequency:

0.00003(T)

Molecular consequence:

NM_000463.2:c.1021C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Gilbert's syndrome
Synonyms:: HYPERBILIRUBINEMIA I; HYPERBILIRUBINEMIA, ARIAS TYPE; Gilbert Disease; See all synonyms [MedGen]
Identifiers:: MedGen: C0017551; OMIM: 143500

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000033303	OMIM	no assertion criteria provided	Affects (Nov 1, 2003)	germline	literature only	PubMed (3) [See all records that cite these PMIDs] 9295054, 8276413, 14616765

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000033303

OMIM

no assertion criteria provided

Affects
(Nov 1, 2003)

germline

literature only

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

The UDP glycosyltransferase gene superfamily: recommended nomenclature update based on evolutionary divergence.

Mackenzie PI, Owens IS, Burchell B, Bock KW, Bairoch A, Bélanger A, Fournel-Gigleux S, Green M, Hum DW, Iyanagi T, Lancet D, Louisot P, Magdalou J, Chowdhury JR, Ritter JK, Schachter H, Tephly TR, Tipton KF, Nebert DW.

Pharmacogenetics. 1997 Aug;7(4):255-69. Review.

PubMed [citation]

PMID:: 9295054

Identification of an A-to-G missense mutation in exon 2 of the UGT1 gene complex that causes Crigler-Najjar syndrome type 2.

Moghrabi N, Clarke DJ, Boxer M, Burchell B.

Genomics. 1993 Oct;18(1):171-3. No abstract available.

PubMed [citation]

PMID:: 8276413

See all PubMed Citations (3)

Details of each submission

From OMIM, SCV000033303.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (3)

Description

This variant has been designated UGT1A1*10 (Mackenzie et al., 1997).

In an 11-month-old male patient, with Crigler-Najjar syndrome type I (218800), born of consanguineous Pakistani parents, Moghrabi et al. (1993) identified a homozygous C-to-T transition in exon 3 of the UGT1A1 gene, resulting in an arg341-to-ter (R341X) substitution. The patient had total absence of all phenol/bilirubin UGT proteins and their activities in liver homogenate by enzymologic and immunochemical analysis.

Maruo et al. (2003) reported a Chinese girl with Crigler-Najjar syndrome type I, born of consanguineous parents, who was homozygous for the R341X mutation, which resulted from a 1021C-T transition. Family members heterozygous for the R341X mutation were asymptomatic. However, 3 family members with Gilbert syndrome (143500) were found to be compound heterozygous for R341X and a complex allele containing 2 mutations (P229Q; 191740.0010 and A(TA)7TAA; 191740.0011).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 14, 2017

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