NM_000463.3(UGT1A1):c.577G>A (p.Val193Met) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 28, 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:: RCV002518136.2

Allele description [Variation Report for NM_000463.3(UGT1A1):c.577G>A (p.Val193Met)]

NM_000463.3(UGT1A1):c.577G>A (p.Val193Met)

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.577G>A (p.Val193Met)

HGVS:

NC_000002.12:g.233760864G>A
NG_002601.2:g.176121G>A
NG_033238.1:g.5592G>A
NM_000463.3:c.577G>AMANE SELECT
NM_001072.4:c.862-6170G>AMANE SELECT
NM_007120.3:c.868-6170G>AMANE SELECT
NM_019075.4:c.856-6170G>AMANE SELECT
NM_019076.5:c.856-6170G>AMANE SELECT
NM_019077.3:c.856-6170G>AMANE SELECT
NM_019078.2:c.868-6170G>AMANE SELECT
NM_019093.4:c.868-6170G>AMANE SELECT
NM_021027.3:c.856-6170G>AMANE SELECT
NM_205862.3:c.61-6170G>A
NP_000454.1:p.Val193Met
NP_000454.1:p.Val193Met
LRG_733t1:c.577G>A
LRG_733:g.5592G>A
LRG_733p1:p.Val193Met
NC_000002.11:g.234669510G>A
NM_000463.2:c.577G>A

Protein change:

V193M

Links:

dbSNP: rs375974892

NCBI 1000 Genomes Browser:

rs375974892

Molecular consequence:

NM_001072.4:c.862-6170G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_007120.3:c.868-6170G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_019075.4:c.856-6170G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_019076.5:c.856-6170G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_019077.3:c.856-6170G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_019078.2:c.868-6170G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_019093.4:c.868-6170G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_021027.3:c.856-6170G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_205862.3:c.61-6170G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_000463.3:c.577G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003739888	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Apr 28, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003739888

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Apr 28, 2022)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

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

Details of each submission

From Ambry Genetics, SCV003739888.2

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

Description

The c.577G>A (p.V193M) alteration is located in exon 1 (coding exon 1) of the UGT1A1 gene. This alteration results from a G to A substitution at nucleotide position 577, causing the valine (V) at amino acid position 193 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#	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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