NM_000463.3(UGT1A1):c.1100G>T (p.Arg367Leu) AND not provided

Germline classification:: Uncertain significance (3 submissions)
Last evaluated:: Sep 22, 2021
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000728545.10

Allele description [Variation Report for NM_000463.3(UGT1A1):c.1100G>T (p.Arg367Leu)]

NM_000463.3(UGT1A1):c.1100G>T (p.Arg367Leu)

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.1100G>T (p.Arg367Leu)

HGVS:

NC_000002.12:g.233768235G>T
NG_002601.2:g.183492G>T
NG_033238.1:g.12963G>T
NM_000463.3:c.1100G>TMANE SELECT
NM_001072.4:c.1097G>TMANE SELECT
NM_007120.3:c.1103G>TMANE SELECT
NM_019075.4:c.1091G>TMANE SELECT
NM_019076.5:c.1091G>TMANE SELECT
NM_019077.3:c.1091G>TMANE SELECT
NM_019078.2:c.1103G>TMANE SELECT
NM_019093.4:c.1103G>TMANE SELECT
NM_021027.3:c.1091G>TMANE SELECT
NM_205862.3:c.296G>T
NP_000454.1:p.Arg367Leu
NP_000454.1:p.Arg367Leu
NP_001063.2:p.Arg366Leu
NP_001063.2:p.Arg366Leu
NP_009051.1:p.Arg368Leu
NP_009051.1:p.Arg368Leu
NP_061948.1:p.Arg364Leu
NP_061948.1:p.Arg364Leu
NP_061949.3:p.Arg364Leu
NP_061949.3:p.Arg364Leu
NP_061950.2:p.Arg364Leu
NP_061950.2:p.Arg364Leu
NP_061951.1:p.Arg368Leu
NP_061951.1:p.Arg368Leu
NP_061966.1:p.Arg368Leu
NP_061966.1:p.Arg368Leu
NP_066307.1:p.Arg364Leu
NP_066307.1:p.Arg364Leu
NP_995584.1:p.Arg99Leu
NP_995584.1:p.Arg99Leu
LRG_733t1:c.1100G>T
LRG_733:g.12963G>T
LRG_733p1:p.Arg367Leu
NC_000002.11:g.234676881G>T
NM_000463.2:c.1100G>T
NM_001072.3:c.1097G>T
NM_007120.2:c.1103G>T
NM_019075.2:c.1091G>T
NM_019076.4:c.1091G>T
NM_019077.2:c.1091G>T
NM_019078.1:c.1103G>T
NM_019093.2:c.1103G>T
NM_021027.2:c.1091G>T
NM_205862.1:c.296G>T
p.Arg367Leu

Protein change:

R364L

Links:

dbSNP: rs374047963

NCBI 1000 Genomes Browser:

rs374047963

Molecular consequence:

NM_000463.3:c.1100G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001072.4:c.1097G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_007120.3:c.1103G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_019075.4:c.1091G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_019076.5:c.1091G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_019077.3:c.1091G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_019078.2:c.1103G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_019093.4:c.1103G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_021027.3:c.1091G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_205862.3:c.296G>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

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
SCV000856136	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Uncertain significance (Jul 31, 2017)	germline	clinical testing	Citation Link,
SCV001714675	Mayo Clinic Laboratories, Mayo Clinic	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Oct 4, 2019)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004237502	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Sep 22, 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

SCV000856136

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Uncertain significance
(Jul 31, 2017)

germline

clinical testing

Citation Link,

SCV001714675

Mayo Clinic Laboratories, Mayo Clinic

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Oct 4, 2019)

germline

clinical testing

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

SCV004237502

Revvity Omics, Revvity

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Sep 22, 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	2	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 Eurofins Ntd Llc (ga), SCV000856136.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	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	germline	unknown	not provided	not provided	not provided		1	not provided	not provided	not provided

From Mayo Clinic Laboratories, Mayo Clinic, SCV001714675.1

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

#	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		1	not provided	not provided	not provided

From Revvity Omics, Revvity, SCV004237502.1

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

#	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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