U.S. flag

An official website of the United States government

UGT1A1*28 AND multiple conditions

Germline classification:
no classifications from unflagged records (1 submission)
Review status:
no classifications from unflagged records
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:
RCV001269334.13

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_000463.3:c.-55_-54insATMANE 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)

Name:
Bilirubin, serum level of, quantitative trait locus 1 (BILIQTL1)
Identifiers:
MedGen: C1866173; OMIM: 601816
Name:
Crigler-Najjar syndrome type 1
Synonyms:
HYPERBILIRUBINEMIA, CRIGLER-NAJJAR TYPE I
Identifiers:
MONDO: MONDO:0021020; MedGen: C0010324; OMIM: 218800
Name:
Lucey-Driscoll syndrome (HBLRTFN)
Synonyms:
Transient familial neonatal hyperbilirubinemia
Identifiers:
MONDO: MONDO:0009383; MedGen: C0270210; Orphanet: 2312; OMIM: 237900
Name:
Crigler-Najjar syndrome, type II
Synonyms:
HYPERBILIRUBINEMIA, CRIGLER-NAJJAR TYPE II; Crigler Najjar syndrome, type 2; Mutation in the UDP-glucuronosyl-transferase gene
Identifiers:
MONDO: MONDO:0011725; MedGen: C2931132; Orphanet: 205; OMIM: 606785
Name:
Gilbert syndrome
Synonyms:
HYPERBILIRUBINEMIA I; HYPERBILIRUBINEMIA, ARIAS TYPE; Gilbert Disease; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007745; MedGen: C0017551; OMIM: 143500

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
No clinical assertions found. See "Flagged submissions" below.
Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot 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 Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital, SCV001448279.1

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

Flagged submissions

Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001448279Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital
flagged submission
Reason: This record appears to be redundant with a more recent record from the same submitter.
Notes: SCV001448279 appears to be redundant with SCV002818175.

(ACMG Guidelines, 2015)		Pathogenic
(Oct 4, 2020) 		germlineclinical testing

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

Last Updated: Nov 18, 2024