NM_000463.3(UGT1A1):c.189C>T (p.Asp63=) AND Lucey-Driscoll syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 28, 2017
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:: RCV001140533.4

Allele description [Variation Report for NM_000463.3(UGT1A1):c.189C>T (p.Asp63=)]

NM_000463.3(UGT1A1):c.189C>T (p.Asp63=)

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.189C>T (p.Asp63=)

HGVS:

NC_000002.12:g.233760476C>T
NG_002601.2:g.175733C>T
NG_033238.1:g.5204C>T
NM_000463.3:c.189C>TMANE SELECT
NM_001072.4:c.862-6558C>TMANE SELECT
NM_007120.3:c.868-6558C>TMANE SELECT
NM_019075.4:c.856-6558C>TMANE SELECT
NM_019076.5:c.856-6558C>TMANE SELECT
NM_019077.3:c.856-6558C>TMANE SELECT
NM_019078.2:c.868-6558C>TMANE SELECT
NM_019093.4:c.868-6558C>TMANE SELECT
NM_021027.3:c.856-6558C>TMANE SELECT
NM_205862.3:c.61-6558C>T
NP_000454.1:p.Asp63=
NP_000454.1:p.Asp63=
LRG_733t1:c.189C>T
LRG_733:g.5204C>T
LRG_733p1:p.Asp63=
NC_000002.11:g.234669122C>T
NM_000463.2:c.189C>T

Links:

dbSNP: rs191471887

NCBI 1000 Genomes Browser:

rs191471887

Molecular consequence:

NM_001072.4:c.862-6558C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_007120.3:c.868-6558C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_019075.4:c.856-6558C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_019076.5:c.856-6558C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_019077.3:c.856-6558C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_019078.2:c.868-6558C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_019093.4:c.868-6558C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_021027.3:c.856-6558C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_205862.3:c.61-6558C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_000463.3:c.189C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:: Lucey-Driscoll syndrome (HBLRTFN)
Synonyms:: Transient familial neonatal hyperbilirubinemia
Identifiers:: MONDO: MONDO:0009383; MedGen: C0270210; Orphanet: 2312; OMIM: 237900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001300799	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification Criteria 13 December 2019)	Uncertain significance (Apr 28, 2017)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 23290513, 26200705 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001300799

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)

Uncertain significance
(Apr 28, 2017)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

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

Citations

PubMed

UGT1A1 genetic analysis as a diagnostic aid for individuals with unconjugated hyperbilirubinemia.

Skierka JM, Kotzer KE, Lagerstedt SA, O'Kane DJ, Baudhuin LM.

J Pediatr. 2013 Jun;162(6):1146-52, 1152.e1-2. doi: 10.1016/j.jpeds.2012.11.042. Epub 2013 Jan 4.

PubMed [citation]

PMID:: 23290513

UGT1A1 gene mutations and neonatal hyperbilirubinemia in Guangxi Heiyi Zhuang and Han populations.

Wu XJ, Zhong DN, Xie XZ, Ye DZ, Gao ZY.

Pediatr Res. 2015 Nov;78(5):585-8. doi: 10.1038/pr.2015.134. Epub 2015 Jul 22.

PubMed [citation]

PMID:: 26200705

Details of each submission

From Illumina Laboratory Services, Illumina, SCV001300799.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

#	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: Nov 3, 2024

ClinVar

Relating variation to medicine