NM_004827.3(ABCG2):c.421C>A (p.Gln141Lys) AND rosuvastatin response - Metabolism/PK - ClinVar

NM_004827.3(ABCG2):c.421C>A (p.Gln141Lys) AND rosuvastatin response - Metabolism/PK

Germline classification:: drug response (1 submission)
Last evaluated:: Mar 24, 2021
Review status:: 3 stars out of maximum of 4 stars
reviewed by expert panel

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:: RCV001787817.10

Allele description [Variation Report for NM_004827.3(ABCG2):c.421C>A (p.Gln141Lys)]

NM_004827.3(ABCG2):c.421C>A (p.Gln141Lys)

Gene:

ABCG2:ATP binding cassette subfamily G member 2 (JR blood group) [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4q22.1

Genomic location:

Preferred name:

NM_004827.3(ABCG2):c.421C>A (p.Gln141Lys)

Other names:

ABCG2, GLN141LYS (rs2231142)

HGVS:

NC_000004.12:g.88131171G>T
NG_032067.2:g.105152C>A
NM_001257386.2:c.421C>A
NM_001348985.1:c.421C>A
NM_001348986.1:c.421C>A
NM_001348987.1:c.421C>A
NM_001348988.1:c.421C>A
NM_001348989.2:c.421C>A
NM_004827.3:c.421C>AMANE SELECT
NP_001244315.1:p.Gln141Lys
NP_001335914.1:p.Gln141Lys
NP_001335915.1:p.Gln141Lys
NP_001335916.1:p.Gln141Lys
NP_001335917.1:p.Gln141Lys
NP_001335918.1:p.Gln141Lys
NP_004818.2:p.Gln141Lys
LRG_823t1:c.421C>A
LRG_823:g.105152C>A
LRG_823p1:p.Gln141Lys
NC_000004.11:g.89052323G>T
NM_004827.2:c.421C>A
Q9UNQ0:p.Gln141Lys

Protein change:

Q141K; GLN141LYS

Links:

PharmGKB: 1154221922; PharmGKB: 1154221922PA134308647; PharmGKB: 1447982582; PharmGKB: 1447982582PA448320; PharmGKB Clinical Annotation: 1154221922; UniProtKB: Q9UNQ0#VAR_020780; OMIM: 603756.0007; dbSNP: rs2231142

NCBI 1000 Genomes Browser:

rs2231142

Molecular consequence:

NM_001257386.2:c.421C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001348985.1:c.421C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001348986.1:c.421C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001348987.1:c.421C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001348988.1:c.421C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001348989.2:c.421C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_004827.3:c.421C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: rosuvastatin response - Metabolism/PK
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002031252	PharmGKB	reviewed by expert panel (Pharmacogenomics knowledge for personalized medicine)	drug response (Mar 24, 2021) Condition: rosuvastatin response - Metabolism/PK	germline	curation	PubMed (10) [See all records that cite these PMIDs] 16784736, 19474787, 23876492, 23930675, 25630984, 28322941, 29950617, 31857620, 32361904, 22992668 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002031252

PharmGKB

reviewed by expert panel

(Pharmacogenomics knowledge for personalized medicine)

drug response
(Mar 24, 2021)
Condition: rosuvastatin response - Metabolism/PK

germline

curation

PubMed (10)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	curation

Citations

PubMed

Role of BCRP 421C>A polymorphism on rosuvastatin pharmacokinetics in healthy Chinese males.

Zhang W, Yu BN, He YJ, Fan L, Li Q, Liu ZQ, Wang A, Liu YL, Tan ZR, Fen-Jiang, Huang YF, Zhou HH.

Clin Chim Acta. 2006 Nov;373(1-2):99-103. Epub 2006 May 13.

PubMed [citation]

PMID:: 16784736

ABCG2 polymorphism markedly affects the pharmacokinetics of atorvastatin and rosuvastatin.

Keskitalo JE, Zolk O, Fromm MF, Kurkinen KJ, Neuvonen PJ, Niemi M.

Clin Pharmacol Ther. 2009 Aug;86(2):197-203. doi: 10.1038/clpt.2009.79. Epub 2009 May 27.

PubMed [citation]

PMID:: 19474787

See all PubMed Citations (10)

Details of each submission

From PharmGKB, SCV002031252.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	curation	PubMed (10)

Description

PharmGKB Level of Evidence 2A: Variants in Level 2A clinical annotations are found in PharmGKB’s Tier 1 Very Important Pharmacogenes (VIPs). These variants are in known pharmacogenes, implying causation of drug phenotype is more likely. These clinical annotations describe variant-drug combinations with a moderate level of evidence supporting the association. For example, the association may be found in multiple cohorts, but there may be a minority of studies that do not support the majority assertion. Level 2A clinical annotations must be supported by at least two independent publications.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jul 15, 2024

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