UGT1A1*28 AND not specified

Germline classification:: Conflicting classifications of pathogenicity (2 submissions)
Last evaluated:: Jul 31, 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:: RCV000249621.19

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)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000304404	PreventionGenetics, part of Exact Sciences	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV002761120	Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Jul 31, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000304404

PreventionGenetics, part of Exact Sciences

criteria provided, single submitter

(ACMG Guidelines, 2015)

Benign

germline

clinical testing

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

SCV002761120

Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Jul 31, 2024)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, SCV002761120.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jan 19, 2025

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