NM_000463.3(UGT1A1):c.578T>A (p.Val193Glu) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 2, 2021
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:: RCV001994959.4

Allele description [Variation Report for NM_000463.3(UGT1A1):c.578T>A (p.Val193Glu)]

NM_000463.3(UGT1A1):c.578T>A (p.Val193Glu)

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.578T>A (p.Val193Glu)

HGVS:

NC_000002.12:g.233760865T>A
NG_002601.2:g.176122T>A
NG_033238.1:g.5593T>A
NM_000463.3:c.578T>AMANE SELECT
NM_001072.4:c.862-6169T>AMANE SELECT
NM_007120.3:c.868-6169T>AMANE SELECT
NM_019075.4:c.856-6169T>AMANE SELECT
NM_019076.5:c.856-6169T>AMANE SELECT
NM_019077.3:c.856-6169T>AMANE SELECT
NM_019078.2:c.868-6169T>AMANE SELECT
NM_019093.4:c.868-6169T>AMANE SELECT
NM_021027.3:c.856-6169T>AMANE SELECT
NM_205862.3:c.61-6169T>A
NP_000454.1:p.Val193Glu
NP_000454.1:p.Val193Glu
LRG_733t1:c.578T>A
LRG_733:g.5593T>A
LRG_733p1:p.Val193Glu
NC_000002.11:g.234669511T>A
NM_000463.2:c.578T>A

Protein change:

V193E

Links:

dbSNP: rs2125988381

NCBI 1000 Genomes Browser:

rs2125988381

Molecular consequence:

NM_001072.4:c.862-6169T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_007120.3:c.868-6169T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_019075.4:c.856-6169T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_019076.5:c.856-6169T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_019077.3:c.856-6169T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_019078.2:c.868-6169T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_019093.4:c.868-6169T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_021027.3:c.856-6169T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_205862.3:c.61-6169T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_000463.3:c.578T>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002243573	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Dec 2, 2021)	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

SCV002243573

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Dec 2, 2021)

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

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002243573.3

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

Description

In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Not Available"). This missense change has been observed in individual(s) with UGT1A1-related conditions (Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces valine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 193 of the UGT1A1 protein (p.Val193Glu).

#	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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