NM_152587.3(C11orf65):c.175-5285G>T AND metformin response - Efficacy

Clinical significance:drug response (Last evaluated: Nov 17, 2017)

Review status:3 stars out of maximum of 4 stars

reviewed by expert panel

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000211248.1

Allele description [Variation Report for NM_152587.3(C11orf65):c.175-5285G>T]

NM_152587.3(C11orf65):c.175-5285G>T

Gene:
C11orf65:chromosome 11 open reading frame 65 [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q22.3
Genomic location:
Preferred name:
NM_152587.3(C11orf65):c.175-5285G>T
HGVS:
  • NC_000011.10:g.108412434C>A
  • NM_152587.3:c.175-5285G>T
  • NC_000011.9:g.108283161C>A
Links:
PharmGKB Clinical Annotation: 981237900; dbSNP: rs11212617
NCBI 1000 Genomes Browser:
rs11212617
Molecular consequence:
  • NM_152587.3:c.175-5285G>T - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
metformin response - Efficacy
Identifiers:
MedGen: CN236564

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000268157PharmGKBreviewed by expert panel
drug response
(Nov 17, 2017)
Condition: metformin response - Efficacy
Drug reported used for: Diabetes Mellitus, Type 2
germlinecuration

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

Citation Link

Description

Drug is not necessarily used to treat response condition

SCV000268157

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedcuration

Citations

PubMed

Common variants near ATM are associated with glycemic response to metformin in type 2 diabetes.

GoDARTS and UKPDS Diabetes Pharmacogenetics Study Group.; Wellcome Trust Case Control Consortium 2., Zhou K, Bellenguez C, Spencer CC, Bennett AJ, Coleman RL, Tavendale R, Hawley SA, Donnelly LA, Schofield C, Groves CJ, Burch L, Carr F, Strange A, Freeman C, Blackwell JM, Bramon E, Brown MA, Casas JP, Corvin A, Craddock N, et al.

Nat Genet. 2011 Feb;43(2):117-20. doi: 10.1038/ng.735. Epub 2010 Dec 26.

PubMed [citation]
PMID:
21186350
PMCID:
PMC3030919

A gene variant near ATM is significantly associated with metformin treatment response in type 2 diabetes: a replication and meta-analysis of five cohorts.

van Leeuwen N, Nijpels G, Becker ML, Deshmukh H, Zhou K, Stricker BH, Uitterlinden AG, Hofman A, van 't Riet E, Palmer CN, Guigas B, Slagboom PE, Durrington P, Calle RA, Neil A, Hitman G, Livingstone SJ, Colhoun H, Holman RR, McCarthy MI, Dekker JM, 't Hart LM, et al.

Diabetologia. 2012 Jul;55(7):1971-7. doi: 10.1007/s00125-012-2537-x. Epub 2012 Mar 28.

PubMed [citation]
PMID:
22453232
PMCID:
PMC3369131
See all PubMed Citations (4)

Details of each submission

From PharmGKB, SCV000268157.3

#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: Mar 30, 2019

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