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NM_000463.3(UGT1A1):c.1211T>C (p.Met404Thr) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 4, 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:
RCV003740558.1

Allele description [Variation Report for NM_000463.3(UGT1A1):c.1211T>C (p.Met404Thr)]

NM_000463.3(UGT1A1):c.1211T>C (p.Met404Thr)

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.1211T>C (p.Met404Thr)
HGVS:
  • NC_000002.12:g.233768346T>C
  • NG_002601.2:g.183603T>C
  • NG_033238.1:g.13074T>C
  • NM_000463.3:c.1211T>CMANE SELECT
  • NM_001072.4:c.1208T>CMANE SELECT
  • NM_007120.3:c.1214T>CMANE SELECT
  • NM_019075.4:c.1202T>CMANE SELECT
  • NM_019076.5:c.1202T>CMANE SELECT
  • NM_019077.3:c.1202T>CMANE SELECT
  • NM_019078.2:c.1214T>CMANE SELECT
  • NM_019093.4:c.1214T>CMANE SELECT
  • NM_021027.3:c.1202T>CMANE SELECT
  • NM_205862.3:c.407T>C
  • NP_000454.1:p.Met404Thr
  • NP_000454.1:p.Met404Thr
  • NP_001063.2:p.Met403Thr
  • NP_001063.2:p.Met403Thr
  • NP_009051.1:p.Met405Thr
  • NP_009051.1:p.Met405Thr
  • NP_061948.1:p.Met401Thr
  • NP_061948.1:p.Met401Thr
  • NP_061949.3:p.Met401Thr
  • NP_061949.3:p.Met401Thr
  • NP_061950.2:p.Met401Thr
  • NP_061950.2:p.Met401Thr
  • NP_061951.1:p.Met405Thr
  • NP_061951.1:p.Met405Thr
  • NP_061966.1:p.Met405Thr
  • NP_061966.1:p.Met405Thr
  • NP_066307.1:p.Met401Thr
  • NP_066307.1:p.Met401Thr
  • NP_995584.1:p.Met136Thr
  • NP_995584.1:p.Met136Thr
  • LRG_733t1:c.1211T>C
  • LRG_733:g.13074T>C
  • LRG_733p1:p.Met404Thr
  • NC_000002.11:g.234676992T>C
  • NM_000463.2:c.1211T>C
  • NM_001072.3:c.1208T>C
  • NM_007120.2:c.1214T>C
  • NM_019075.2:c.1202T>C
  • NM_019076.4:c.1202T>C
  • NM_019077.2:c.1202T>C
  • NM_019078.1:c.1214T>C
  • NM_019093.2:c.1214T>C
  • NM_021027.2:c.1202T>C
  • NM_205862.1:c.407T>C
Protein change:
M136T
Molecular consequence:
  • NM_000463.3:c.1211T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001072.4:c.1208T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007120.3:c.1214T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_019075.4:c.1202T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_019076.5:c.1202T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_019077.3:c.1202T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_019078.2:c.1214T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_019093.4:c.1214T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_021027.3:c.1202T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_205862.3:c.407T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004562705ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process 2024)		Uncertain significance
(Oct 4, 2023) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV004562705.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The UGT1A1 c.1211T>C; p.Met404Thr variant (rs549328655) is reported in the literature in an individual with Gilbert syndrome who also is homozygous for the mild (TA)7 promoter variant (Rodrigues 2012). This variant is only found on three alleles in the Genome Aggregation Database, indicating it is not a common polymorphism. Computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.574). Given limited information, the clinical significance of the p.Met404Thr variant is uncertain at this time. References: Rodrigues C et al. Impact of UGT1A1 gene variants on total bilirubin levels in Gilbert syndrome patients and in healthy subjects. Blood Cells Mol Dis. 2012 Mar 15;48(3):166-72. PMID: 22325916.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 13, 2024