NM_000463.3(UGT1A1):c.182C>G (p.Ala61Gly) AND Gilbert syndrome

Germline classification:: Likely pathogenic (1 submission)
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:: RCV002221165.1

Allele description [Variation Report for NM_000463.3(UGT1A1):c.182C>G (p.Ala61Gly)]

NM_000463.3(UGT1A1):c.182C>G (p.Ala61Gly)

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.182C>G (p.Ala61Gly)

HGVS:

NC_000002.12:g.233760469C>G
NG_002601.2:g.175726C>G
NG_033238.1:g.5197C>G
NM_000463.3:c.182C>GMANE SELECT
NM_001072.4:c.862-6565C>GMANE SELECT
NM_007120.3:c.868-6565C>GMANE SELECT
NM_019075.4:c.856-6565C>GMANE SELECT
NM_019076.5:c.856-6565C>GMANE SELECT
NM_019077.3:c.856-6565C>GMANE SELECT
NM_019078.2:c.868-6565C>GMANE SELECT
NM_019093.4:c.868-6565C>GMANE SELECT
NM_021027.3:c.856-6565C>GMANE SELECT
NM_205862.3:c.61-6565C>G
NP_000454.1:p.Ala61Gly
NP_000454.1:p.Ala61Gly
LRG_733t1:c.182C>G
LRG_733:g.5197C>G
LRG_733p1:p.Ala61Gly
NC_000002.11:g.234669115C>G
NM_000463.2:c.182C>G

Protein change:

A61G

Links:

dbSNP: rs1273237448

NCBI 1000 Genomes Browser:

rs1273237448

Molecular consequence:

NM_001072.4:c.862-6565C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_007120.3:c.868-6565C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_019075.4:c.856-6565C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_019076.5:c.856-6565C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_019077.3:c.856-6565C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_019078.2:c.868-6565C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_019093.4:c.868-6565C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_021027.3:c.856-6565C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_205862.3:c.61-6565C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_000463.3:c.182C>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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cytochrome-c oxidase, cbb3-type subunit II [Azonexus sp.]
cytochrome-c oxidase, cbb3-type subunit II [Azonexus sp.]
gi|2810161747|ref|WP_375803822.1|

Protein
Mus musculus 16 days embryo head cDNA, RIKEN full-length enriched library, clone...
Mus musculus 16 days embryo head cDNA, RIKEN full-length enriched library, clone:C130039A08 product:unclassifiable, full insert sequence
gi|26092701|dbj|AK048179.1|

Nucleotide
FAD-dependent oxidoreductase, partial [Gluconobacter kondonii]
FAD-dependent oxidoreductase, partial [Gluconobacter kondonii]
gi|2326743394|ref|WP_264816537.1|

Protein
serine hydrolase [Streptomyces amritsarensis]
serine hydrolase [Streptomyces amritsarensis]
gi|1133658776|ref|WP_076046388.1|

Protein
MULTISPECIES: ferritin-like domain-containing protein [Streptomyces]
MULTISPECIES: ferritin-like domain-containing protein [Streptomyces]
gi|982004368|ref|WP_060181203.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002498571	Department of Gastroenterology, Ruijin Hospital, Shanghai Jiao Tong University, School of Medicine	no assertion criteria provided	Likely pathogenic	unknown	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002498571

Department of Gastroenterology, Ruijin Hospital, Shanghai Jiao Tong University, School of Medicine

no assertion criteria provided

Likely pathogenic

unknown

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	no	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Department of Gastroenterology, Ruijin Hospital, Shanghai Jiao Tong University, School of Medicine, SCV002498571.1

#	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	unknown	no	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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