NM_002739.5(PRKCG):c.-192_-178del AND not provided

Germline classification:: Likely benign (1 submission)
Last evaluated:: Feb 9, 2022
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV003328962.1

Allele description [Variation Report for NM_002739.5(PRKCG):c.-192_-178del]

NM_002739.5(PRKCG):c.-192_-178del

Gene:

PRKCG:protein kinase C gamma [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

19q13.42

Genomic location:

Preferred name:

NM_002739.5(PRKCG):c.-192_-178del

HGVS:

NC_000019.10:g.53882303_53882317del
NG_009114.1:g.5091_5105del
NM_001316329.2:c.-192_-178del
NM_002739.5:c.-192_-178delMANE SELECT
LRG_669t1:c.-192_-178del
LRG_669:g.5091_5105del
NC_000019.9:g.54385557_54385571del
NM_002739.3:c.-192_-178delGGCGGAGCCGGCGCG

Molecular consequence:

NM_001316329.2:c.-192_-178del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_002739.5:c.-192_-178del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004035677	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely benign (Feb 9, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004035677

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely benign
(Feb 9, 2022)

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

Details of each submission

From GeneDx, SCV004035677.1

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

Description

See Variant Classification Assertion Criteria.

#	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: Sep 23, 2023

ClinVar

Relating variation to medicine