NM_006446.5(SLCO1B1):c.521T>C (p.Val174Ala) AND simvastatin response - Metabolism/PK - ClinVar

NM_006446.5(SLCO1B1):c.521T>C (p.Val174Ala) AND simvastatin response - Metabolism/PK

Germline classification:: drug response (1 submission)
Last evaluated:: Feb 14, 2022
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:: RCV003227621.8

Allele description [Variation Report for NM_006446.5(SLCO1B1):c.521T>C (p.Val174Ala)]

NM_006446.5(SLCO1B1):c.521T>C (p.Val174Ala)

Gene:

SLCO1B1:solute carrier organic anion transporter family member 1B1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12p12.1

Genomic location:

Preferred name:

NM_006446.5(SLCO1B1):c.521T>C (p.Val174Ala)

Other names:

SLCO1B1, p.V174A

HGVS:

NC_000012.12:g.21178615T>C
NG_011745.1:g.52422T>C
NM_006446.5:c.521T>CMANE SELECT
NP_006437.3:p.Val174Ala
LRG_1022t1:c.521T>C
LRG_1022:g.52422T>C
NC_000012.11:g.21331549T>C
NM_006446.4:c.521T>C
Q9Y6L6:p.Val174Ala

Nucleotide change:

c.521T>C

Protein change:

V174A

Links:

PharmGKB: 1449556772PA166129446; PharmGKB: 655384011; PharmGKB: 655384011PA451363; PharmGKB: 981344897; PharmGKB: 981344897PA448897; PharmGKB: 981345293; PharmGKB: 981345293PA451089; PharmGKB: 981345350; PharmGKB: 981345350PA134308647; PharmGKB: 981345382; PharmGKB: 981345382PA133950441; PharmGKB Clinical Annotation: 655384011; PharmGKB Clinical Annotation: 981344897; PharmGKB Clinical Annotation: 981345293; PharmGKB Clinical Annotation: 981345350; PharmGKB Clinical Annotation: 981345382; UniProtKB: Q9Y6L6#VAR_015076; dbSNP: rs4149056

NCBI 1000 Genomes Browser:

rs4149056

Molecular consequence:

NM_006446.5:c.521T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: simvastatin response - Metabolism/PK
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003925520	PharmGKB	reviewed by expert panel (Pharmacogenomics knowledge for personalized medicine)	drug response (Feb 14, 2022) Condition: simvastatin response - Metabolism/PK	germline	curation	PubMed (10) [See all records that cite these PMIDs] 17108811, 24598718, 25446771, 25673568, 26164721, 26367500, 26774055, 28350522, 29469964, 22992668 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003925520

PharmGKB

reviewed by expert panel

(Pharmacogenomics knowledge for personalized medicine)

drug response
(Feb 14, 2022)
Condition: simvastatin 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

SLCO1B1 polymorphism markedly affects the pharmacokinetics of simvastatin acid.

Pasanen MK, Neuvonen M, Neuvonen PJ, Niemi M.

Pharmacogenet Genomics. 2006 Dec;16(12):873-9.

PubMed [citation]

PMID:: 17108811

Identification of the effect of multiple polymorphisms on the pharmacokinetics of simvastatin and simvastatin acid using a population-modeling approach.

Tsamandouras N, Dickinson G, Guo Y, Hall S, Rostami-Hodjegan A, Galetin A, Aarons L.

Clin Pharmacol Ther. 2014 Jul;96(1):90-100. doi: 10.1038/clpt.2014.55. Epub 2014 Mar 5.

PubMed [citation]

PMID:: 24598718

See all PubMed Citations (10)

Details of each submission

From PharmGKB, SCV003925520.1

#	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 1A: Level 1A clinical annotations describe variant-drug combinations that have variant-specific prescribing guidance available in a current clinical guideline annotation or an FDA-approved drug label annotation. Annotations of drug labels or clinical guidelines must give prescribing guidance for specific variants (e.g. CYP2C9*3, HLA-B*57:01) or provide mapping from defined allele functions to diplotypes and phenotypes to be used as supporting evidence for a level 1A clinical annotation. Level 1A clinical annotations must also be supported by at least one publication in addition to a clinical guideline or drug label with variant-specific prescribing guidance.

#	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: Nov 24, 2024

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