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UGT1A1*6 AND Irinotecan response

Germline classification:
drug response (1 submission)
Last evaluated:
Apr 4, 2018
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000664403.10

Allele description [Variation Report for UGT1A1*6]

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_000463.3: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
  • NM_000463.2:c.211G>A
Protein change:
G71R; Gly71Arg
Links:
Genetic Testing Registry (GTR): GTR000613302; Medical Genetics Summaries: UGT1A1*6; 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_000463.3:c.211G>A - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
Decreased function

Condition(s)

Name:
Irinotecan response
Synonyms:
Camptosar response
Identifiers:
MedGen: CN077989

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000788335Medical Genetics Summaries
criteria provided, single submitter

(Medical Genetics Summaries: Irinotecan therapy and UGT1A1 genotype)
drug response
(Apr 4, 2018)
germlinecuration

PubMed (7)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedcuration

Citations

PubMed

Correlation of UGT1A1(*)28 and (*)6 polymorphisms with irinotecan-induced neutropenia in Thai colorectal cancer patients.

Atasilp C, Chansriwong P, Sirachainan E, Reungwetwattana T, Chamnanphon M, Puangpetch A, Wongwaisayawan S, Sukasem C.

Drug Metab Pharmacokinet. 2016 Feb;31(1):90-94. doi: 10.1016/j.dmpk.2015.12.004. Epub 2015 Dec 31.

PubMed [citation]
PMID:
26830078

Effects of UGT1A1*6, UGT1A1*28, and ABCB1-3435C>T polymorphisms on irinotecan induced toxicity in Chinese cancer patients.

Yan L, Wang XF, Wei LM, Nie YL, Liu JY, Zhang LR.

Int J Clin Pharmacol Ther. 2016 Mar;54(3):193-9. doi: 10.5414/CP202442.

PubMed [citation]
PMID:
26857783
See all PubMed Citations (7)
PMC

UGT1A1*6, UGT1A7*3 and UGT1A9*1b polymorphisms are predictive markers for severe toxicity in patients with metastatic gastrointestinal cancer treated with irinotecan-based regimens.

Cui C, Shu C, Cao D, Yang Y, Liu J, Shi S, Shao Z, Wang N, Yang T, Liang H, Zou S, Hu S.

Oncology Letters. 2016 Sep 14; 12(5): 4231-4237

PMC [article]
PMCID:
PMC5104260
PMID:
27895797
DOI:
10.3892/ol.2016.5130

Details of each submission

From Medical Genetics Summaries, SCV000788335.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (7)

Description

UGT1A1*6 appears to be an important predictor of severe toxicity to irinotecan therapy in Asian populations. In Japan, a reduced dose of irinotecan is recommended for individuals with UGT1A1 *6/*6, *6/*28, and *28/*28 genotypes.

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

Last Updated: Nov 3, 2024