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

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

Germline classification:: drug response (1 submission)
Last evaluated:: Oct 14, 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:: RCV000211385.1

Allele description

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: 1183617724; PharmGKB: 1183617724PA164713257; PharmGKB: 1183617724PA449015; PharmGKB: 1183617724PA449673; PharmGKB: 1183617724PA450522; PharmGKB: 1183617724PA450801; PharmGKB: 1183617724PA451866; PharmGKB: 1183617724PA452229; 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:: citalopram response - Efficacy
Identifiers:: MedGen: CN236503

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000268344	PharmGKB	reviewed by expert panel (Pharmacogenomics knowledge for personalized medicine)	drug response (Oct 14, 2015) Condition: citalopram response - Efficacy Drug reported used for: Depressive Disorder	germline	curation	PubMed (4) [See all records that cite these PMIDs] 15565110, 18191112, 20709156, 22992668 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000268344

PharmGKB

reviewed by expert panel

(Pharmacogenomics knowledge for personalized medicine)

drug response
(Oct 14, 2015)
Condition: citalopram response - Efficacy
Drug reported used for: Depressive Disorder

germline

curation

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

Citation Link

Description

Drug is not necessarily used to treat response condition: SCV000268344

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

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, SCV000268344.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	curation	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.

#	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: Aug 20, 2020

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