CYP2C9*6 AND not provided

This record was updated by the submitter. Please see the current version.

Germline classification:: Likely benign; other (2 submissions)
Last evaluated:: Aug 6, 2018
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000363569.5

Allele description

CYP2C9*6

Gene:

CYP2C9:cytochrome P450 family 2 subfamily C member 9 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

10q23.33

Genomic location:

Preferred name:

CYP2C9*6

Other names:

NM_000771.3(CYP2C9):c.818delA (p.Lys273Argfs); 818delA; Lys273Argfs

HGVS:

NC_000010.11:g.94949283del
NG_008385.1:g.15626del
NG_008385.2:g.16126del
NM_000771.3:c.817del
NM_000771.4:c.818delMANE SELECT
NP_000762.2:p.Lys273fs
LRG_1195t1:c.818del
LRG_1195:g.16126del
LRG_1195p1:p.Lys273fs
NC_000010.10:g.96709040del
NM_000771.3:c.817del
NM_000771.3:c.817delA
NM_000771.3:c.818del

Protein change:

K273fs

Links:

Medical Genetics Summaries: CYP2C9*6; dbSNP: rs9332131

NCBI 1000 Genomes Browser:

rs9332131

Molecular consequence:

NM_000771.4:c.818del - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000338709	Eurofins NTD LLC (GA)	criteria provided, single submitter (EGL Classification Definitions 2015)	other (Dec 28, 2015)	germline	clinical testing	Citation Link,
SCV002004848	GeneDx	criteria provided, single submitter (GeneDX Variant Classification (06012015))	Likely benign (Aug 6, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000338709

Eurofins NTD LLC (GA)

criteria provided, single submitter

(EGL Classification Definitions 2015)

other
(Dec 28, 2015)

germline

clinical testing

Citation Link,

SCV002004848

GeneDx

criteria provided, single submitter

(GeneDX Variant Classification (06012015))

Likely benign
(Aug 6, 2018)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	3	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Eurofins NTD LLC (GA), SCV000338709.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	3	not provided	not provided	clinical testing	not provided

#	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		3	not provided	not provided	not provided

From GeneDx, SCV002004848.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

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

Last Updated: Dec 24, 2022

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