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NM_000106.6(CYP2D6):c.1457G>C (p.Ser486Thr)

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Interpretation:
Benign; other​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2
First in ClinVar:
Apr 9, 2018
Most recent Submission:
Dec 16, 2018
Last evaluated:
Aug 6, 2018
Accession:
VCV000242701.4
Variation ID:
242701
Description:
single nucleotide variant
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NM_000106.6(CYP2D6):c.1457G>C (p.Ser486Thr)

Allele ID
38485
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
22q13.2
Genomic location
22: 42126611 (GRCh38) GRCh38 UCSC
22: 42522613 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_000106.6:c.1457G>C MANE Select NP_000097.3:p.Ser486Thr missense
NM_001025161.3:c.1304G>C NP_001020332.2:p.Ser435Thr missense
NC_000022.11:g.42126611C>G
... more HGVS
Protein change
S486T, S435T
Other names
CYP2D6*17
Canonical SPDI
NC_000022.11:42126610:C:G
Functional consequence
Decreased function
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.57695
Trans-Omics for Precision Medicine (TOPMed) 0.57811
Links
ClinGen: CA039095
UniProtKB: P10635#VAR_008341
OMIM: 124030.0007
dbSNP: rs1135840
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 RCV000609529.2
other 1 criteria provided, single submitter Aug 6, 2018 RCV000734610.4
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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: SCV000728215.1
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)
other
(Aug 06, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Affected status: unknown
Allele origin: germline
Eurofins NTD LLC (GA)
Accession: SCV000862764.1
First in ClinVar: Dec 16, 2018
Last updated: Dec 16, 2018
Other databases
http://www.egl-eurofins.com/emvc… http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=CYP2D6
Sex: mixed

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
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=CYP2D6 - - - -

Text-mined citations for rs1135840...

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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