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NM_000106.5(CYP2D6):c.971A>C (p.His324Pro)

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Interpretation:
Likely benign, other​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Apr 12, 2019)
Last evaluated:
Aug 6, 2018
Accession:
VCV000039385.2
Variation ID:
39385
Description:
single nucleotide variant
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NM_000106.5(CYP2D6):c.971A>C (p.His324Pro)

Allele ID
47988
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
22q13.2
Genomic location
22: 42127856 (GRCh38) GRCh38 UCSC
22: 42523858 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000022.10:g.42523858T>G
NC_000022.11:g.42127856T>G
NM_000106.6:c.971A>C MANE Select NP_000097.3:p.His324Pro missense
... more HGVS
Protein change
H324P, H273P
Other names
CYP2D6E
2935A>C
Canonical SPDI
NC_000022.11:42127855:T:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.00180 (G)

Allele frequency
1000 Genomes Project 0.00180
The Genome Aggregation Database (gnomAD) 0.00023
Trans-Omics for Precision Medicine (TOPMed) 0.00032
Exome Aggregation Consortium (ExAC) 0.00135
The Genome Aggregation Database (gnomAD), exomes 0.00129
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00038
Links
dbSNP: rs5030867
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign, other 2 criteria provided, multiple submitters, no conflicts Aug 6, 2018 RCV000734618.2
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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
216 306

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
other
(Aug 06, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000862772.1
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Likely benign
(Apr 12, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000977544.1
Submitted: (Apr 12, 2019)
Evidence details
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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Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=CYP2D6 - - - -

Text-mined citations for rs5030867...

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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 Feb 27, 2021