NM_001145775.2(FKBP5):c.-20+18122T>C AND paroxetine response - Efficacy

Clinical significance:drug response (Last evaluated: Oct 14, 2015)

Review status:3 stars out of maximum of 4 stars

reviewed by expert panel

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000211378.1

Allele description [Variation Report for NM_001145775.2(FKBP5):c.-20+18122T>C]

NM_001145775.2(FKBP5):c.-20+18122T>C

Gene:
FKBP5:FKBP prolyl isomerase 5 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p21.31
Genomic location:
Preferred name:
NM_001145775.2(FKBP5):c.-20+18122T>C
HGVS:
  • NC_000006.12:g.35702206A>G
  • NG_012645.2:g.31378T>C
  • NM_001145775.2:c.-20+18122T>C
  • NC_000006.11:g.35669983A>G
Links:
PharmGKB Clinical Annotation: 1183617724; dbSNP: rs4713916
NCBI 1000 Genomes Browser:
rs4713916
Molecular consequence:
  • NM_001145775.2:c.-20+18122T>C - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
paroxetine response - Efficacy
Identifiers:
MedGen: CN236573

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000268347PharmGKBreviewed by expert panel
drug response
(Oct 14, 2015)
Condition: paroxetine response - Efficacy
Drug reported used for: Depressive Disorder
germlinecuration

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

Citation Link

Description

Drug is not necessarily used to treat response condition

SCV000268347

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedcuration

Citations

PubMed

Polymorphisms in FKBP5 are associated with increased recurrence of depressive episodes and rapid response to antidepressant treatment.

Binder EB, Salyakina D, Lichtner P, Wochnik GM, Ising M, Pütz B, Papiol S, Seaman S, Lucae S, Kohli MA, Nickel T, Künzel HE, Fuchs B, Majer M, Pfennig A, Kern N, Brunner J, Modell S, Baghai T, Deiml T, Zill P, Bondy B, et al.

Nat Genet. 2004 Dec;36(12):1319-25. Epub 2004 Nov 21.

PubMed [citation]
PMID:
15565110

The FKBP5-gene in depression and treatment response--an association study in the Sequenced Treatment Alternatives to Relieve Depression (STAR*D) Cohort.

Lekman M, Laje G, Charney D, Rush AJ, Wilson AF, Sorant AJ, Lipsky R, Wisniewski SR, Manji H, McMahon FJ, Paddock S.

Biol Psychiatry. 2008 Jun 15;63(12):1103-10. doi: 10.1016/j.biopsych.2007.10.026. Epub 2008 Jan 11.

PubMed [citation]
PMID:
18191112
PMCID:
PMC2587308
See all PubMed Citations (4)

Details of each submission

From PharmGKB, SCV000268347.3

#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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