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NM_000463.3(UGT1A1):c.1231G>T (p.Val411Leu) AND Hyperbilirubinemia

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 4, 2013
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:
RCV000147894.13

Allele description [Variation Report for NM_000463.3(UGT1A1):c.1231G>T (p.Val411Leu)]

NM_000463.3(UGT1A1):c.1231G>T (p.Val411Leu)

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.1231G>T (p.Val411Leu)
Other names:
p.Val411Leu
HGVS:
  • NC_000002.12:g.233768366G>T
  • NG_002601.2:g.183623G>T
  • NG_033238.1:g.13094G>T
  • NM_000463.3:c.1231G>TMANE SELECT
  • NM_001072.4:c.1228G>TMANE SELECT
  • NM_007120.3:c.1234G>TMANE SELECT
  • NM_019075.4:c.1222G>TMANE SELECT
  • NM_019076.5:c.1222G>TMANE SELECT
  • NM_019077.3:c.1222G>TMANE SELECT
  • NM_019078.2:c.1234G>TMANE SELECT
  • NM_019093.4:c.1234G>TMANE SELECT
  • NM_021027.3:c.1222G>TMANE SELECT
  • NM_205862.3:c.427G>T
  • NP_000454.1:p.Val411Leu
  • NP_000454.1:p.Val411Leu
  • NP_001063.2:p.Val410Leu
  • NP_001063.2:p.Val410Leu
  • NP_009051.1:p.Val412Leu
  • NP_009051.1:p.Val412Leu
  • NP_061948.1:p.Val408Leu
  • NP_061948.1:p.Val408Leu
  • NP_061949.3:p.Val408Leu
  • NP_061949.3:p.Val408Leu
  • NP_061950.2:p.Val408Leu
  • NP_061950.2:p.Val408Leu
  • NP_061951.1:p.Val412Leu
  • NP_061951.1:p.Val412Leu
  • NP_061966.1:p.Val412Leu
  • NP_061966.1:p.Val412Leu
  • NP_066307.1:p.Val408Leu
  • NP_066307.1:p.Val408Leu
  • NP_995584.1:p.Val143Leu
  • NP_995584.1:p.Val143Leu
  • LRG_733t1:c.1231G>T
  • LRG_733:g.13094G>T
  • LRG_733p1:p.Val411Leu
  • NC_000002.11:g.234677012G>T
  • NM_000463.2:c.1231G>T
  • NM_001072.3:c.1228G>T
  • NM_007120.2:c.1234G>T
  • NM_019075.2:c.1222G>T
  • NM_019076.4:c.1222G>T
  • NM_019077.2:c.1222G>T
  • NM_019078.1:c.1234G>T
  • NM_019093.2:c.1234G>T
  • NM_021027.2:c.1222G>T
  • NM_205862.1:c.427G>T
Protein change:
V143L
Links:
dbSNP: rs36076514
NCBI 1000 Genomes Browser:
rs36076514
Molecular consequence:
  • NM_000463.3:c.1231G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001072.4:c.1228G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007120.3:c.1234G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_019075.4:c.1222G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_019076.5:c.1222G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_019077.3:c.1222G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_019078.2:c.1234G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_019093.4:c.1234G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_021027.3:c.1222G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_205862.3:c.427G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hyperbilirubinemia
Identifiers:
MONDO: MONDO:0024288; MedGen: C0311468; Human Phenotype Ontology: HP:0002904

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000195385Genetic Services Laboratory, University of Chicago
criteria provided, single submitter

(ACMG Guidelines, 2007)		Uncertain significance
(Mar 4, 2013) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007.

Richards CS, Bale S, Bellissimo DB, Das S, Grody WW, Hegde MR, Lyon E, Ward BE; Molecular Subcommittee of the ACMG Laboratory Quality Assurance Committee..

Genet Med. 2008 Apr;10(4):294-300. doi: 10.1097/GIM.0b013e31816b5cae.

PubMed [citation]
PMID:
18414213

Details of each submission

From Genetic Services Laboratory, University of Chicago, SCV000195385.1

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

Last Updated: Oct 8, 2024