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UGT1A1*6 AND SN-38 response - Other

Germline classification:
drug response (1 submission)
Last evaluated:
Jul 11, 2016
Review status:
3 stars out of maximum of 4 stars
reviewed by expert panel
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:
RCV000211250.2

Allele description

UGT1A1*6

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:
UGT1A1*6
Other names:
NM_000463.2(UGT1A1):c.211G>A (p.Gly71Arg); 211G>A
HGVS:
  • NC_000002.12:g.233760498G>A
  • NG_002601.2:g.175755G>A
  • NG_033238.1:g.5226G>A
  • NM_000463.2:c.211G>A
  • NM_000463.3:c.211G>AMANE SELECT
  • NM_001072.4:c.862-6536G>AMANE SELECT
  • NM_007120.3:c.868-6536G>AMANE SELECT
  • NM_019075.4:c.856-6536G>AMANE SELECT
  • NM_019076.5:c.856-6536G>AMANE SELECT
  • NM_019077.3:c.856-6536G>AMANE SELECT
  • NM_019078.2:c.868-6536G>AMANE SELECT
  • NM_019093.4:c.868-6536G>AMANE SELECT
  • NM_021027.3:c.856-6536G>AMANE SELECT
  • NM_205862.3:c.61-6536G>A
  • NP_000454.1:p.Gly71Arg
  • NP_000454.1:p.Gly71Arg
  • LRG_733t1:c.211G>A
  • LRG_733:g.5226G>A
  • LRG_733p1:p.Gly71Arg
  • NC_000002.11:g.234669144G>A
  • p.Gly71Arg
Protein change:
G71R; Gly71Arg
Links:
Medical Genetics Summaries: UGT1A1*6; PharmGKB: 981201713; PharmGKB: 981201713PA450085; PharmGKB: 982047955; PharmGKB: 982047955PA165110775; PharmGKB Clinical Annotation: 981201713; PharmGKB Clinical Annotation: 982047955; OMIM: 191740.0016; dbSNP: rs4148323
NCBI 1000 Genomes Browser:
rs4148323
Molecular consequence:
  • NM_001072.4:c.862-6536G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007120.3:c.868-6536G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_019075.4:c.856-6536G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_019076.5:c.856-6536G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_019077.3:c.856-6536G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_019078.2:c.868-6536G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_019093.4:c.868-6536G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_021027.3:c.856-6536G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_205862.3:c.61-6536G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000463.2:c.211G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_000463.3:c.211G>A - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
Decreased function

Condition(s)

Name:
SN-38 response - Other
Identifiers:
MedGen: CN236455

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000268323PharmGKB
reviewed by expert panel

(Pharmacogenomics knowledge for personalized medicine)		drug response
(Jul 11, 2016)
Condition: SN-38 response - Other
Drug reported used for: Neoplasms		germlinecuration

PubMed (5)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedcuration

Citations

PubMed

Common human UGT1A polymorphisms and the altered metabolism of irinotecan active metabolite 7-ethyl-10-hydroxycamptothecin (SN-38).

Gagné JF, Montminy V, Belanger P, Journault K, Gaucher G, Guillemette C.

Mol Pharmacol. 2002 Sep;62(3):608-17.

PubMed [citation]
PMID:
12181437

Comprehensive analysis of UGT1A polymorphisms predictive for pharmacokinetics and treatment outcome in patients with non-small-cell lung cancer treated with irinotecan and cisplatin.

Han JY, Lim HS, Shin ES, Yoo YK, Park YH, Lee JE, Jang IJ, Lee DH, Lee JS.

J Clin Oncol. 2006 May 20;24(15):2237-44. Epub 2006 Apr 24.

PubMed [citation]
PMID:
16636344
See all PubMed Citations (5)

Details of each submission

From PharmGKB, SCV000268323.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (5)

Description

PharmGKB Level of Evidence 2A: Annotation for a variant-drug combination that qualifies for level 2B where the variant is within a VIP (Very Important Pharmacogene) as defined by PharmGKB. The variants in level 2A are in known pharmacogenes, so functional significance is more likely.

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

Last Updated: Nov 29, 2021