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CYP2D6*6 AND Deutetrabenazine response

Germline classification:
drug response (1 submission)
Last evaluated:
May 1, 2019
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV001030443.2

Allele description [Variation Report for CYP2D6*6]

CYP2D6*6

Gene:
CYP2D6:cytochrome P450 family 2 subfamily D member 6 (gene/pseudogene) [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
22q13.2
Genomic location:
Preferred name:
CYP2D6*6
Other names:
NM_000106.5(CYP2D6):c.454delT (p.Trp152Glyfs); CYP2D6T; 1707delT
HGVS:
  • NC_000022.11:g.42129084del
  • NG_008376.4:g.6727del
  • NM_000106.6:c.454delMANE SELECT
  • NM_001025161.3:c.353-140del
  • NP_000097.3:p.Trp152fs
  • LRG_303t1:c.454del
  • LRG_303:g.6727del
  • LRG_303p1:p.Trp152fs
  • NC_000022.10:g.42525086del
  • NG_008376.3:g.5908del
  • NM_000106.5:c.454del
  • NM_000106.5:c.454delT
  • c.1707delT
  • p.Trp152Gly
Protein change:
W152fs
Links:
Genetic Testing Registry (GTR): GTR000613302; Medical Genetics Summaries: CYP2D6*6; OMIM: 124030.0003; dbSNP: rs5030655
NCBI 1000 Genomes Browser:
rs5030655
Molecular consequence:
  • NM_000106.6:c.454del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001025161.3:c.353-140del - intron variant - [Sequence Ontology: SO:0001627]
Functional consequence:
No function

Condition(s)

Name:
Deutetrabenazine response
Synonyms:
Austedo response
Identifiers:
MedGen: CN258189

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001193761Medical Genetics Summaries
criteria provided, single submitter

(Deutetrabenazine Therapy and CYP2D6 Genotype)		drug response
(May 1, 2019)
Condition: Deutetrabenazine response
Drug reported used for: Chorea		germlinecuration

PubMed (7)
[See all records that cite these PMIDs]

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration

Citations

PubMed

Deutetrabenazine for Treatment of Chorea in Huntington Disease.

Geschwind MD, Paras N.

JAMA. 2016 Jul 5;316(1):33-5. doi: 10.1001/jama.2016.8011. No abstract available.

PubMed [citation]
PMID:
27380339

Effect of Deutetrabenazine on Chorea Among Patients With Huntington Disease: A Randomized Clinical Trial.

Huntington Study Group., Frank S, Testa CM, Stamler D, Kayson E, Davis C, Edmondson MC, Kinel S, Leavitt B, Oakes D, O'Neill C, Vaughan C, Goldstein J, Herzog M, Snively V, Whaley J, Wong C, Suter G, Jankovic J, Jimenez-Shahed J, Hunter C, Claassen DO, et al.

JAMA. 2016 Jul 5;316(1):40-50. doi: 10.1001/jama.2016.8655.

PubMed [citation]
PMID:
27380342
See all PubMed Citations (7)

Details of each submission

From Medical Genetics Summaries, SCV001193761.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (7)

Description

Individuals who do not have any fully functional alleles are either intermediate metabolizers (one decreased function and one no function allele, e.g., *6/*41) or poor metabolizers (2 no function alleles, e.g., *6/*6). Therapeutic recommendations from professional societies state that the maximum dose of deutetrabenazine should not exceed 36 mg per day in individuals with 2 decreased function alleles (CYP2D6 poor metabolizers) to avoid abnormally high plasma levels due to reduced metabolic clearance.

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

Last Updated: Oct 8, 2024