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NM_000463.2(UGT1A1):c.991C>T (p.Gln331Ter) AND Crigler Najjar syndrome, type 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 1, 1997
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:
RCV000013055.22

Allele description

NM_000463.2(UGT1A1):c.991C>T (p.Gln331Ter)

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.991C>T (p.Gln331Ter)
Other names:
UGT1A1*5; 991(C>T)
HGVS:
  • NC_000002.12:g.233767160C>T
  • NG_002601.2:g.182417C>T
  • NG_009254.1:g.11888C>T
  • NG_033238.1:g.11888C>T
  • NM_000463.2:c.991C>T
  • NP_000454.1:p.Gln331Ter
  • LRG_733t1:c.991C>T
  • LRG_733:g.11888C>T
  • LRG_733p1:p.Gln331Ter
  • NC_000002.11:g.234675806C>T
Protein change:
Q328*; GLN331TER
Links:
OMIM: 191740.0003; dbSNP: rs111033539
NCBI 1000 Genomes Browser:
rs111033539
Molecular consequence:
  • NM_000463.2:c.991C>T - nonsense - [Sequence Ontology: SO:0001587]

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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000033301OMIM
no assertion criteria provided
Pathogenic
(Aug 1, 1997) 		germlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Mechanisms of inherited deficiencies of multiple UDP-glucuronosyltransferase isoforms in two patients with Crigler-Najjar syndrome, type I.

Bosma PJ, Chowdhury JR, Huang TJ, Lahiri P, Elferink RP, Van Es HH, Lederstein M, Whitington PF, Jansen PL, Chowdhury NR.

FASEB J. 1992 Jul;6(10):2859-63.

PubMed [citation]
PMID:
1634050

Details of each submission

From OMIM, SCV000033301.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

This variant has been designated UGT1A1*5 (Mackenzie et al., 1997).

In a patient with type I Crigler-Najjar syndrome (218800), Bosma et al. (1992) found a C-to-T transition 6 bp upstream from the 3-prime end of exon 2 of the UGT1A1 gene, resulting in a gln331-to-ter (Q331X) substitution. Although the splice sites surrounding exon 2 were normal, mRNA analysis showed a 132-nucleotide deletion corresponding to the skipping of exon 2 in this patient. The relationship of the Q331R mutation and exon 2 skipping was unclear. A mutation involving the same codon (Q331R; 191740.0005) was identified in a patient with type II Crigler-Najjar syndrome (606785).

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

Last Updated: Oct 14, 2017