NM_002739.5(PRKCG):c.448T>C (p.Cys150Arg) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 28, 2019
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:: RCV000992819.2

Allele description [Variation Report for NM_002739.5(PRKCG):c.448T>C (p.Cys150Arg)]

NM_002739.5(PRKCG):c.448T>C (p.Cys150Arg)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.42

Genomic location:

Preferred name:

NM_002739.5(PRKCG):c.448T>C (p.Cys150Arg)

HGVS:

NC_000019.10:g.53889936T>C
NG_009114.1:g.12724T>C
NM_001316329.2:c.448T>C
NM_002739.5:c.448T>CMANE SELECT
NP_001303258.1:p.Cys150Arg
NP_002730.1:p.Cys150Arg
LRG_669t1:c.448T>C
LRG_669:g.12724T>C
NC_000019.9:g.54393190T>C
NM_002739.3:c.448T>C

Protein change:

C150R

Links:

dbSNP: rs1599943341

NCBI 1000 Genomes Browser:

rs1599943341

Molecular consequence:

NM_001316329.2:c.448T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_002739.5:c.448T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001145378	Athena Diagnostics	criteria provided, single submitter (Athena Diagnostics Criteria)	Uncertain significance (Jan 28, 2019)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 30078120, 26467025

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001145378

Athena Diagnostics

criteria provided, single submitter

(Athena Diagnostics Criteria)

Uncertain significance
(Jan 28, 2019)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

High Degree of Genetic Heterogeneity for Hereditary Cerebellar Ataxias in Australia.

Kang C, Liang C, Ahmad KE, Gu Y, Siow SF, Colebatch JG, Whyte S, Ng K, Cremer PD, Corbett AJ, Davis RL, Roscioli T, Cowley MJ, Park JS, Sue CM, Kumar KR.

Cerebellum. 2019 Feb;18(1):137-146. doi: 10.1007/s12311-018-0969-7.

PubMed [citation]

PMID:: 30078120

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]

PMID:: 26467025
PMCID:: PMC4737317

Details of each submission

From Athena Diagnostics, SCV001145378.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

#	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		not provided	not provided	not provided	not provided

Last Updated: May 7, 2024

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