CYP2D6*10 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:: RCV001030444.2

Allele description [Variation Report for CYP2D6*10]

CYP2D6*10

Gene:

CYP2D6:cytochrome P450 family 2 subfamily D member 6 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

22q13.2

Genomic location:

Preferred name:

CYP2D6*10

Other names:

NM_000106.6(CYP2D6):c.100C>T (p.Pro34Ser)

HGVS:

NC_000022.11:g.42130692G>A
NG_008376.4:g.5119C>T
NM_000106.6:c.100C>TMANE SELECT
NM_001025161.3:c.100C>T
NP_000097.3:p.Pro34Ser
NP_001020332.2:p.Pro34Ser
LRG_303t1:c.100C>T
LRG_303:g.5119C>T
LRG_303p1:p.Pro34Ser
NC_000022.10:g.42526694G>A
NG_008376.3:g.4300C>T
NM_000106.4:c.100C>T
NM_000106.5:c.100C>T
P10635:p.Pro34Ser
c.100C>T

Protein change:

P34S; PRO34SER

Links:

Genetic Testing Registry (GTR): GTR000500503; Medical Genetics Summaries: CYP2D6*10; UniProtKB: P10635#VAR_008336; OMIM: 124030.0005; dbSNP: rs1065852

NCBI 1000 Genomes Browser:

rs1065852

Molecular consequence:

NM_000106.6:c.100C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001025161.3:c.100C>T - missense variant - [Sequence Ontology: SO:0001583]

Functional consequence:

Decreased function

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001193762	Medical Genetics Summaries	criteria provided, single submitter (Deutetrabenazine Therapy and CYP2D6 Genotype)	drug response (May 1, 2019) Condition: Deutetrabenazine response Drug reported used for: Chorea	germline	curation	PubMed (7) [See all records that cite these PMIDs] 27380339, 27380342, 27819145, 29497277, 28265459, 29449008, 31046213 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001193762

Medical Genetics Summaries

criteria provided, single submitter

(Deutetrabenazine Therapy and CYP2D6 Genotype)

drug response
(May 1, 2019)
Condition: Deutetrabenazine response
Drug reported used for: Chorea

germline

curation

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

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	curation

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, SCV001193762.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	curation	PubMed (7)

Description

CYP2D6*10 has decreased function: individuals with one decreased function and one no function allele (e.g., *4/*10) are intermediate metabolizers; individuals with two decreased function alleles (e.g. *10/*10) are normal metabolizers or intermediate metabolizers (controversy remains). 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.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 24, 2023

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