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NM_000106.6(CYP2D6):c.886C>T (p.Arg296Cys)

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Interpretation:
Benign​

Review status:
criteria provided, single submitter
Submissions:
1
First in ClinVar:
Apr 9, 2018
Most recent Submission:
Apr 9, 2018
Last evaluated:
Feb 27, 2018
Accession:
VCV000242771.2
Variation ID:
242771
Description:
single nucleotide variant
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NM_000106.6(CYP2D6):c.886C>T (p.Arg296Cys)

Allele ID
31934
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
22q13.2
Genomic location
22: 42127941 (GRCh38) GRCh38 UCSC
22: 42523943 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_000106.6:c.886C>T MANE Select NP_000097.3:p.Arg296Cys missense
NM_001025161.3:c.733C>T NP_001020332.2:p.Arg245Cys missense
NC_000022.11:g.42127941G>A
... more HGVS
Protein change
R296C, R245C
Other names
CYP2D6*17
Canonical SPDI
NC_000022.11:42127940:G:A
Functional consequence
Decreased function
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.37647
Trans-Omics for Precision Medicine (TOPMed) 0.38576
Links
ClinGen: CA039022
UniProtKB: P10635#VAR_008340
OMIM: 124030.0007
dbSNP: rs16947
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter Feb 27, 2018 RCV000616933.2
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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
Benign
(Feb 27, 2018)
criteria provided, single submitter
Method: clinical testing
not specified
Affected status: yes
Allele origin: germline
GeneDx
Accession: SCV000724283.1
First in ClinVar: Apr 09, 2018
Last updated: Apr 09, 2018
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs16947...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Aug 16, 2022