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NC_000018.9:g.57851097T>C AND antipsychotics response - Toxicity/ADR

Germline classification:
drug response (1 submission)
Last evaluated:
Sep 22, 2015
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:
RCV000211281.2

Allele description

NC_000018.9:g.57851097T>C

Gene:
MC4R:melanocortin 4 receptor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
18q21.32
Genomic location:
Preferred name:
NC_000018.9:g.57851097T>C
HGVS:
  • NC_000018.10:g.60183864T>C
  • NC_000018.9:g.57851097T>C
Links:
PharmGKB: 1183614676; PharmGKB: 1183614676PA452233; PharmGKB Clinical Annotation: 1183614676; dbSNP: rs17782313
NCBI 1000 Genomes Browser:
rs17782313

Condition(s)

Name:
antipsychotics response - Toxicity/ADR
Identifiers:
MedGen: CN236479

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000268206PharmGKB
reviewed by expert panel

(Pharmacogenomics knowledge for personalized medicine)		drug response
(Sep 22, 2015)
Condition: antipsychotics response - Toxicity/ADR
Drug reported used for: Schizophrenia		germlinecuration

PubMed (4)
[See all records that cite these PMIDs]

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedcuration

Citations

PubMed

Genetic association study between antipsychotic-induced weight gain and the melanocortin-4 receptor gene.

Chowdhury NI, Tiwari AK, Souza RP, Zai CC, Shaikh SA, Chen S, Liu F, Lieberman JA, Meltzer HY, Malhotra AK, Kennedy JL, Müller DJ.

Pharmacogenomics J. 2013 Jun;13(3):272-9. doi: 10.1038/tpj.2011.66. Epub 2012 Feb 7.

PubMed [citation]
PMID:
22310352

Association of the common MC4R rs17782313 polymorphism with antipsychotic-related weight gain.

Czerwensky F, Leucht S, Steimer W.

J Clin Psychopharmacol. 2013 Feb;33(1):74-9. doi: 10.1097/JCP.0b013e31827772db.

PubMed [citation]
PMID:
23277235
See all PubMed Citations (4)

Details of each submission

From PharmGKB, SCV000268206.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (4)

Description

PharmGKB Level of Evidence 2B: Annotation for a variant-drug combination with moderate evidence of an association. The association must be replicated but there may be some studies that do not show statistical significance, and/or the effect size may be small.

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

Last Updated: Nov 29, 2021