NM_000463.2(UGT1A1):c.1070A>G (p.Gln357Arg) AND Crigler Najjar syndrome, type 1

Clinical significance:Pathogenic (Last evaluated: May 1, 2002)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000013076.17

Allele description

NM_000463.2(UGT1A1):c.1070A>G (p.Gln357Arg)

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.1070A>G (p.Gln357Arg)
HGVS:
  • NC_000002.12:g.233767922A>G
  • NG_002601.2:g.183179A>G
  • NG_033238.1:g.12650A>G
  • NM_000463.2:c.1070A>G
  • NP_000454.1:p.Gln357Arg
  • LRG_733t1:c.1070A>G
  • LRG_733:g.12650A>G
  • LRG_733p1:p.Gln357Arg
  • NC_000002.11:g.234676568A>G
  • P22309:p.Gln357Arg
Protein change:
Q354R; GLN357ARG
Links:
UniProtKB: P22309#VAR_007703; OMIM: 191740.0019; dbSNP: rs72551351
NCBI 1000 Genomes Browser:
rs72551351
Molecular consequence:
  • NM_000463.2:c.1070A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Crigler Najjar syndrome, type 1
Synonyms:
HYPERBILIRUBINEMIA, CRIGLER-NAJJAR TYPE I
Identifiers:
MedGen: C0010324; OMIM: 218800

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000033322OMIMno assertion criteria providedPathogenic
(May 1, 2002)
germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Crigler-Najjar syndrome type I in Tunisia may be associated with a founder effect related to the Q357R mutation within the UGT1 gene.

Francoual J, Rivierre A, Mokrani C, Khrouf N, Gottrand F, Myara A, Le Bihan B, Capel L, Lindenbaum A, Labrune P.

Hum Mutat. 2002 May;19(5):570-1. No abstract available.

PubMed [citation]
PMID:
11968090

Details of each submission

From OMIM, SCV000033322.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In 6 Tunisian patients with Crigler-Najjar syndrome type I (218800), Francoual et al. (2002) identified a homozygous A-to-G transition in the UGT1A1 gene, resulting in a gln357-to-arg (Q357R) substitution. Furthermore, all 6 patients were homozygous for a TA insertion within the promoter of the UGT1A1 gene, thus resulting in TA7/TA7 homozygosity. All 12 parents were heterozygous for the Q357R mutation and the TA7 allele. The patients originated from different parts of Tunisia and were not related to each other. The findings suggested that the Q357R mutation in this group of patients was due to a founder effect.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 15, 2017