NM_000463.3(UGT1A1):c.625C>T (p.Arg209Trp) AND Crigler-Najjar syndrome

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jun 23, 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:: RCV000503589.6

Allele description [Variation Report for NM_000463.3(UGT1A1):c.625C>T (p.Arg209Trp)]

NM_000463.3(UGT1A1):c.625C>T (p.Arg209Trp)

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.625C>T (p.Arg209Trp)

Other names:

UGT1A1*8

HGVS:

NC_000002.12:g.233760912C>T
NG_002601.2:g.176169C>T
NG_033238.1:g.5640C>T
NM_000463.3:c.625C>TMANE SELECT
NM_001072.4:c.862-6122C>TMANE SELECT
NM_007120.3:c.868-6122C>TMANE SELECT
NM_019075.4:c.856-6122C>TMANE SELECT
NM_019076.5:c.856-6122C>TMANE SELECT
NM_019077.3:c.856-6122C>TMANE SELECT
NM_019078.2:c.868-6122C>TMANE SELECT
NM_019093.4:c.868-6122C>TMANE SELECT
NM_021027.3:c.856-6122C>TMANE SELECT
NM_205862.3:c.61-6122C>T
NP_000454.1:p.Arg209Trp
NP_000454.1:p.Arg209Trp
LRG_733t1:c.625C>T
LRG_733:g.5640C>T
LRG_733p1:p.Arg209Trp
NC_000002.11:g.234669558C>T
NM_000463.2:c.625C>T
NM_000463.3:c.625C>T

Protein change:

R209W

Links:

dbSNP: rs72551343

NCBI 1000 Genomes Browser:

rs72551343

Molecular consequence:

NM_001072.4:c.862-6122C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_007120.3:c.868-6122C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_019075.4:c.856-6122C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_019076.5:c.856-6122C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_019077.3:c.856-6122C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_019078.2:c.868-6122C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_019093.4:c.868-6122C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_021027.3:c.856-6122C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_205862.3:c.61-6122C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_000463.3:c.625C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Crigler-Najjar syndrome
Identifiers:: MONDO: MONDO:0009044; MedGen: C5551003; Orphanet: 205

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000597838	Genetic Services Laboratory, University of Chicago	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Jun 23, 2017)	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

SCV000597838

Genetic Services Laboratory, University of Chicago

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Jun 23, 2017)

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	yes	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 Genetic Services Laboratory, University of Chicago, SCV000597838.1

#	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	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 24, 2024

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