NM_000463.3(UGT1A1):c.1028C>T (p.Ser343Leu) AND UGT1A1-related disorder

This record was updated by the submitter. Please see the current version.

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 8, 2023
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:: RCV004536041.1

Allele description

NM_000463.3(UGT1A1):c.1028C>T (p.Ser343Leu)

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.1028C>T (p.Ser343Leu)

HGVS:

NC_000002.12:g.233767880C>T
NG_002601.2:g.183137C>T
NG_033238.1:g.12608C>T
NM_000463.3:c.1028C>TMANE SELECT
NM_001072.4:c.1025C>TMANE SELECT
NM_007120.3:c.1031C>TMANE SELECT
NM_019075.4:c.1019C>TMANE SELECT
NM_019076.5:c.1019C>TMANE SELECT
NM_019077.3:c.1019C>TMANE SELECT
NM_019078.2:c.1031C>TMANE SELECT
NM_019093.4:c.1031C>TMANE SELECT
NM_021027.3:c.1019C>TMANE SELECT
NM_205862.3:c.224C>T
NP_000454.1:p.Ser343Leu
NP_000454.1:p.Ser343Leu
NP_001063.2:p.Ser342Leu
NP_001063.2:p.Ser342Leu
NP_009051.1:p.Ser344Leu
NP_009051.1:p.Ser344Leu
NP_061948.1:p.Ser340Leu
NP_061948.1:p.Ser340Leu
NP_061949.3:p.Ser340Leu
NP_061949.3:p.Ser340Leu
NP_061950.2:p.Ser340Leu
NP_061950.2:p.Ser340Leu
NP_061951.1:p.Ser344Leu
NP_061951.1:p.Ser344Leu
NP_061966.1:p.Ser344Leu
NP_061966.1:p.Ser344Leu
NP_066307.1:p.Ser340Leu
NP_066307.1:p.Ser340Leu
NP_995584.1:p.Ser75Leu
NP_995584.1:p.Ser75Leu
LRG_733t1:c.1028C>T
LRG_733:g.12608C>T
LRG_733p1:p.Ser343Leu
NC_000002.11:g.234676526C>T
NM_000463.2:c.1028C>T
NM_001072.3:c.1025C>T
NM_007120.2:c.1031C>T
NM_019075.2:c.1019C>T
NM_019076.4:c.1019C>T
NM_019077.2:c.1019C>T
NM_019078.1:c.1031C>T
NM_019093.2:c.1031C>T
NM_021027.2:c.1019C>T
NM_205862.1:c.224C>T

Protein change:

S340L

Links:

dbSNP: rs144978321

NCBI 1000 Genomes Browser:

rs144978321

Molecular consequence:

NM_000463.3:c.1028C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001072.4:c.1025C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_007120.3:c.1031C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_019075.4:c.1019C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_019076.5:c.1019C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_019077.3:c.1019C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_019078.2:c.1031C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_019093.4:c.1031C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_021027.3:c.1019C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_205862.3:c.224C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: UGT1A1-related disorder
Synonyms:: UGT1A1-Related Disorders; UGT1A1-related condition
Identifiers:

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Xanthomonas hortorum pv. gardneri strain ICMP 7383 plasmid pICMP7383.2, complete...
Xanthomonas hortorum pv. gardneri strain ICMP 7383 plasmid pICMP7383.2, complete sequence
gi|1122401326|ref|NZ_CP018733.1|

Nucleotide
Asparagaceae ribosomal protein S16 (rps16) gene, intron; chloroplast.
Asparagaceae ribosomal protein S16 (rps16) gene, intron; chloroplast.
PopSet: 2752863482

PopSet
serine protease inhibitor A3K precursor [Mus musculus]
serine protease inhibitor A3K precursor [Mus musculus]
gi|148747546|ref|NP_035588.2|

Protein
Chain A, Obelin
Chain A, Obelin
gi|15826397|pdb|1JF0|A

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004117973	PreventionGenetics, part of Exact Sciences	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (May 8, 2023)	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

SCV004117973

PreventionGenetics, part of Exact Sciences

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(May 8, 2023)

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	unknown	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 PreventionGenetics, part of Exact Sciences, SCV004117973.1

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

Description

The UGT1A1 c.1028C>T variant is predicted to result in the amino acid substitution p.Ser343Leu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.017% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-234676526-C-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

#	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 29, 2024

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