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UGT1A1*28 AND not specified

Germline classification:
Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:
Feb 6, 2024
Review status:
criteria provided, conflicting classifications
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:
RCV000249621.17

Allele description [Variation Report for UGT1A1*28]

UGT1A1*28

Genes:
  • UGT1A1:UDP glucuronosyltransferase family 1 member A1 [Gene - OMIM - HGNC]
  • UGT1A:UDP glucuronosyltransferase family 1 member A complex locus [Gene - HGNC]
  • UGT1A10:UDP glucuronosyltransferase family 1 member A10 [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:
Microsatellite
Cytogenetic location:
2q37.1
Genomic location:
Preferred name:
UGT1A1*28
Other names:
A(TA)7TAA; (TA)7TAA; c.-53_-52insTA,A(TA)7TAA,UGT1A1*28; TA7; *28
HGVS:
  • NC_000002.12:g.233760235TA[8]
  • NG_002601.2:g.175492TA[8]
  • NG_033238.1:g.4963TA[8]
  • NM_001072.4:c.862-6800AT[8]MANE SELECT
  • NM_007120.3:c.868-6800AT[8]MANE SELECT
  • NM_019075.4:c.856-6800AT[8]MANE SELECT
  • NM_019076.5:c.856-6800AT[8]MANE SELECT
  • NM_019077.3:c.856-6800AT[8]MANE SELECT
  • NM_019078.2:c.868-6800AT[8]MANE SELECT
  • NM_019093.4:c.868-6800AT[8]MANE SELECT
  • NM_021027.3:c.856-6800AT[8]MANE SELECT
  • NM_205862.3:c.61-6800AT[8]
  • LRG_733t1:c.-41_-40dup
  • LRG_733:g.4963TA[8]
  • NC_000002.11:g.234668879_234668880insAT
  • NC_000002.11:g.234668881TA[8]
  • NC_000002.11:g.234668893_234668894dup
  • NC_000002.11:g.234668893_234668894dupTA
  • NM_000463.2:c.-41_-40dupTA
  • NM_000463.3:c.-40_-39insTAMANE SELECT
  • NM_000463.3:c.-41_-40dupMANE SELECT
  • NM_000463.3:c.-41_-40dupTAMANE SELECT
  • NM_019093.4:c.868-6787_868-6786dupTAMANE SELECT
Note:
Until October 16, 2017, this allele had conflicting molecular definitions. UGT1A1*28 is the allele with 8 copies of the TA repeat (1 copy more than reference). We deleted the representations that reported 7 copies and refreshed the database.
Links:
OMIM: 191740.0011; dbSNP: rs3064744
NCBI 1000 Genomes Browser:
rs3064744
Molecular consequence:
  • NM_001072.4:c.862-6800AT[8] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007120.3:c.868-6800AT[8] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_019075.4:c.856-6800AT[8] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_019076.5:c.856-6800AT[8] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_019077.3:c.856-6800AT[8] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_019078.2:c.868-6800AT[8] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_019093.4:c.868-6800AT[8] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_021027.3:c.856-6800AT[8] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_205862.3:c.61-6800AT[8] - intron variant - [Sequence Ontology: SO:0001627]
Functional consequence:
Decreased function

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000304404PreventionGenetics, part of Exact Sciences
criteria provided, single submitter

(ACMG Guidelines, 2015)
Benigngermlineclinical testing

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

SCV002761120Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital
criteria provided, single submitter

(ACMG Guidelines, 2015)
Uncertain significance
(Feb 6, 2024)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV000304404.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, SCV002761120.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 23, 2024