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NM_000106.5(CYP2D6):c.[886C>T;457G>C]

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Interpretation:
drug response​

Review status:
no assertion criteria provided
Submissions:
1
First in ClinVar:
Apr 4, 2013
Most recent Submission:
Apr 4, 2013
Last evaluated:
May 18, 2015
Accession:
VCV000016895.2
Variation ID:
16895
Description:
Haplotype
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NM_000106.5(CYP2D6):c.[886C>T;457G>C]

Other names
CYP2D6, ARG296CYS AND SER486THR
CYP2D6*2
Functional consequence
-
Links
ClinGen: CA039192
OMIM: 124030.0007
This haplotype includes the following variants
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
drug response 1 no assertion criteria provided May 18, 2015 RCV000018391.28
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CYP2D6 - - GRCh38
GRCh38
GRCh38
GRCh38
GRCh38
GRCh38
GRCh37
216 307

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter More information
drug response
(May 18, 2015)
no assertion criteria provided
Method: literature only
DEBRISOQUINE, ULTRARAPID METABOLISM OF
Affected status: not provided
Allele origin: germline
OMIM
Accession: SCV000038673.1
First in ClinVar: Apr 04, 2013
Last updated: Apr 04, 2013
Publications:
PubMed (2)
PubMed: 79034547927337
Comment on evidence:
This allelic variant is also known as CYP2D6*2 or CYP2D6L. In a family in which 2 sibs and their father had MRs of less that … (more)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
DNA haplotype-dependent differences in the amino acid sequence of debrisoquine 4-hydroxylase (CYP2D6): evidence for two major allozymes in extensive metabolisers. Panserat S Human genetics 1994 PMID: 7927337
Inherited amplification of an active gene in the cytochrome P450 CYP2D locus as a cause of ultrarapid metabolism of debrisoquine. Johansson I Proceedings of the National Academy of Sciences of the United States of America 1993 PMID: 7903454
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=CYP2D6 - - - -

Record last updated Aug 11, 2022