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NM_000463.3(UGT1A1):c.44T>G (p.Leu15Arg) AND multiple conditions

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jul 28, 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:
RCV002496334.1

Allele description [Variation Report for NM_000463.3(UGT1A1):c.44T>G (p.Leu15Arg)]

NM_000463.3(UGT1A1):c.44T>G (p.Leu15Arg)

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.44T>G (p.Leu15Arg)
HGVS:
  • NC_000002.12:g.233760331T>G
  • NG_002601.2:g.175588T>G
  • NG_033238.1:g.5059T>G
  • NM_000463.3:c.44T>GMANE SELECT
  • NM_001072.4:c.862-6703T>GMANE SELECT
  • NM_007120.3:c.868-6703T>GMANE SELECT
  • NM_019075.4:c.856-6703T>GMANE SELECT
  • NM_019076.5:c.856-6703T>GMANE SELECT
  • NM_019077.3:c.856-6703T>GMANE SELECT
  • NM_019078.2:c.868-6703T>GMANE SELECT
  • NM_019093.4:c.868-6703T>GMANE SELECT
  • NM_021027.3:c.856-6703T>GMANE SELECT
  • NM_205862.3:c.61-6703T>G
  • NP_000454.1:p.Leu15Arg
  • NP_000454.1:p.Leu15Arg
  • LRG_733t1:c.44T>G
  • LRG_733:g.5059T>G
  • LRG_733p1:p.Leu15Arg
  • NC_000002.11:g.234668977T>G
  • NM_000463.2:c.44T>G
  • P22309:p.Leu15Arg
Protein change:
L15R; LEU15ARG
Links:
UniProtKB: P22309#VAR_019410; OMIM: 191740.0023; dbSNP: rs111033541
NCBI 1000 Genomes Browser:
rs111033541
Molecular consequence:
  • NM_001072.4:c.862-6703T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007120.3:c.868-6703T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_019075.4:c.856-6703T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_019076.5:c.856-6703T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_019077.3:c.856-6703T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_019078.2:c.868-6703T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_019093.4:c.868-6703T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_021027.3:c.856-6703T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_205862.3:c.61-6703T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000463.3:c.44T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Bilirubin, serum level of, quantitative trait locus 1 (BILIQTL1)
Identifiers:
MedGen: C1866173; OMIM: 601816
Name:
Crigler-Najjar syndrome type 1
Synonyms:
HYPERBILIRUBINEMIA, CRIGLER-NAJJAR TYPE I
Identifiers:
MONDO: MONDO:0021020; MedGen: C0010324; OMIM: 218800
Name:
Lucey-Driscoll syndrome (HBLRTFN)
Synonyms:
Transient familial neonatal hyperbilirubinemia
Identifiers:
MONDO: MONDO:0009383; MedGen: C0270210; Orphanet: 2312; OMIM: 237900
Name:
Crigler-Najjar syndrome, type II
Synonyms:
HYPERBILIRUBINEMIA, CRIGLER-NAJJAR TYPE II; Crigler Najjar syndrome, type 2; Mutation in the UDP-glucuronosyl-transferase gene
Identifiers:
MONDO: MONDO:0011725; MedGen: C2931132; Orphanet: 205; OMIM: 606785
Name:
Gilbert syndrome
Synonyms:
HYPERBILIRUBINEMIA I; HYPERBILIRUBINEMIA, ARIAS TYPE; Gilbert Disease; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007745; MedGen: C0017551; OMIM: 143500

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002810884Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Jul 28, 2021) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical 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 Fulgent Genetics, Fulgent Genetics, SCV002810884.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 1, 2024