NM_000463.3(UGT1A1):c.1304+1G>T AND Gilbert syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 4, 2022
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:: RCV002246803.1

Allele description [Variation Report for NM_000463.3(UGT1A1):c.1304+1G>T]

NM_000463.3(UGT1A1):c.1304+1G>T

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:

NM_000463.3(UGT1A1):c.1304+1G>T

HGVS:

NC_000002.12:g.233768440G>T
NG_002601.2:g.183697G>T
NG_033238.1:g.13168G>T
NM_000463.3:c.1304+1G>TMANE SELECT
NM_001072.4:c.1301+1G>TMANE SELECT
NM_007120.3:c.1307+1G>TMANE SELECT
NM_019075.4:c.1295+1G>TMANE SELECT
NM_019076.5:c.1295+1G>TMANE SELECT
NM_019077.3:c.1295+1G>TMANE SELECT
NM_019078.2:c.1307+1G>TMANE SELECT
NM_019093.4:c.1307+1G>TMANE SELECT
NM_021027.3:c.1295+1G>TMANE SELECT
NM_205862.3:c.500+1G>T
LRG_733:g.13168G>T
NC_000002.11:g.234677086G>T

Links:

dbSNP: rs2126038220

NCBI 1000 Genomes Browser:

rs2126038220

Molecular consequence:

NM_000463.3:c.1304+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001072.4:c.1301+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_007120.3:c.1307+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_019075.4:c.1295+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_019076.5:c.1295+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_019077.3:c.1295+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_019078.2:c.1307+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_019093.4:c.1307+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_021027.3:c.1295+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_205862.3:c.500+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:: Gilbert syndrome
Synonyms:: HYPERBILIRUBINEMIA I; HYPERBILIRUBINEMIA, ARIAS TYPE; Gilbert Disease; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0007745; MedGen: C0017551; OMIM: 143500

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002519938	Mendelics	criteria provided, single submitter (Mendelics Assertion Criteria 2019)	Pathogenic (May 4, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002519938

Mendelics

criteria provided, single submitter

(Mendelics Assertion Criteria 2019)

Pathogenic
(May 4, 2022)

germline

clinical testing

Citation Link

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

Details of each submission

From Mendelics, SCV002519938.1

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

#	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: Sep 1, 2024

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