NM_000463.3(UGT1A1):c.1198A>G (p.Asn400Asp) AND Gilbert syndrome

Germline classification:: Affects (1 submission)
Last evaluated:: Nov 1, 2002
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000013080.25

Allele description [Variation Report for NM_000463.3(UGT1A1):c.1198A>G (p.Asn400Asp)]

NM_000463.3(UGT1A1):c.1198A>G (p.Asn400Asp)

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.1198A>G (p.Asn400Asp)

HGVS:

NC_000002.12:g.233768333A>G
NG_002601.2:g.183590A>G
NG_033238.1:g.13061A>G
NM_000463.3:c.1198A>GMANE SELECT
NM_001072.4:c.1195A>GMANE SELECT
NM_007120.3:c.1201A>GMANE SELECT
NM_019075.4:c.1189A>GMANE SELECT
NM_019076.5:c.1189A>GMANE SELECT
NM_019077.3:c.1189A>GMANE SELECT
NM_019078.2:c.1201A>GMANE SELECT
NM_019093.4:c.1201A>GMANE SELECT
NM_021027.3:c.1189A>GMANE SELECT
NM_205862.3:c.394A>G
NP_000454.1:p.Asn400Asp
NP_000454.1:p.Asn400Asp
NP_001063.2:p.Asn399Asp
NP_001063.2:p.Asn399Asp
NP_009051.1:p.Asn401Asp
NP_009051.1:p.Asn401Asp
NP_061948.1:p.Asn397Asp
NP_061948.1:p.Asn397Asp
NP_061949.3:p.Asn397Asp
NP_061949.3:p.Asn397Asp
NP_061950.2:p.Asn397Asp
NP_061950.2:p.Asn397Asp
NP_061951.1:p.Asn401Asp
NP_061951.1:p.Asn401Asp
NP_061966.1:p.Asn401Asp
NP_061966.1:p.Asn401Asp
NP_066307.1:p.Asn397Asp
NP_066307.1:p.Asn397Asp
NP_995584.1:p.Asn132Asp
NP_995584.1:p.Asn132Asp
LRG_733t1:c.1198A>G
LRG_733:g.13061A>G
LRG_733p1:p.Asn400Asp
NC_000002.11:g.234676979A>G
NM_000463.2:c.1198A>G
NM_001072.3:c.1195A>G
NM_007120.2:c.1201A>G
NM_019075.2:c.1189A>G
NM_019076.4:c.1189A>G
NM_019077.2:c.1189A>G
NM_019078.1:c.1201A>G
NM_019093.2:c.1201A>G
NM_021027.2:c.1189A>G
NM_205862.1:c.394A>G
P22309:p.Asn400Asp

Protein change:

N132D; ASN400ASP

Links:

UniProtKB: P22309#VAR_019412; OMIM: 191740.0022; dbSNP: rs28934877

NCBI 1000 Genomes Browser:

rs28934877

Molecular consequence:

NM_000463.3:c.1198A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001072.4:c.1195A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_007120.3:c.1201A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_019075.4:c.1189A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_019076.5:c.1189A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_019077.3:c.1189A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_019078.2:c.1201A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_019093.4:c.1201A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_021027.3:c.1189A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_205862.3:c.394A>G - missense variant - [Sequence Ontology: SO:0001583]

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

Recent activity

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Homo sapiens phosphatidic acid phosphatase type 2A, mRNA (cDNA clone MGC:176801 ...
Homo sapiens phosphatidic acid phosphatase type 2A, mRNA (cDNA clone MGC:176801 IMAGE:9051784), complete cds
gi|219517773|gb|BC143281.1|

Nucleotide
Homo sapiens mRNA; cDNA DKFZp761B122 (from clone DKFZp761B122)
Homo sapiens mRNA; cDNA DKFZp761B122 (from clone DKFZp761B122)
gi|21740288|emb|AL834496.1|

Nucleotide
Homo sapiens type-2 phosphatidic acid phosphatase alpha-2 (PAP2-a2) mRNA, comple...
Homo sapiens type-2 phosphatidic acid phosphatase alpha-2 (PAP2-a2) mRNA, complete cds
gi|3123849|gb|AF014403.1|

Nucleotide
Homo sapiens sorting nexin 18, mRNA (cDNA clone MGC:150829 IMAGE:40125771), comp...
Homo sapiens sorting nexin 18, mRNA (cDNA clone MGC:150829 IMAGE:40125771), complete cds
gi|111599554|gb|BC117220.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000033326	OMIM	no assertion criteria provided	Affects (Nov 1, 2002)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000033326

OMIM

no assertion criteria provided

Affects
(Nov 1, 2002)

germline

literature only

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	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Association of a homozygous (TA)8 promoter polymorphism and a N400D mutation of UGT1A1 in a child with Crigler-Najjar type II syndrome.

Labrune P, Myara A, Chalas J, Le Bihan B, Capel L, Francoual J.

Hum Mutat. 2002 Nov;20(5):399-401. No abstract available.

PubMed [citation]

PMID:: 12402338

Details of each submission

From OMIM, SCV000033326.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

Labrune et al. (2002) described a patient with Crigler-Najjar syndrome type II (606785) who was homozygous for a (TA)8 promoter polymorphism (191740.0011) and homozygous for a 1213A-G transition in exon 4 of the UGT1A1 gene, resulting in an asn400-to-asp (N400D) mutation. Both parents, who were first cousins, bore the same mutation in heterozygous state and had mild, fast-induced unconjugated hyperbilirubinemia compatible with the diagnosis of Gilbert syndrome (143500).

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

Last Updated: Nov 3, 2024

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