NM_002739.5(PRKCG):c.1900C>T (p.Arg634Cys) AND Spinocerebellar ataxia type 14

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 4, 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:: RCV002086738.2

Allele description [Variation Report for NM_002739.5(PRKCG):c.1900C>T (p.Arg634Cys)]

NM_002739.5(PRKCG):c.1900C>T (p.Arg634Cys)

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.1900C>T (p.Arg634Cys)

HGVS:

NC_000019.10:g.53906452C>T
NG_009114.1:g.29240C>T
NM_001316329.2:c.1900C>T
NM_002739.5:c.1900C>TMANE SELECT
NP_001303258.1:p.Arg634Cys
NP_002730.1:p.Arg634Cys
LRG_669:g.29240C>T
NC_000019.9:g.54409706C>T

Protein change:

R634C

Links:

dbSNP: rs980400591

NCBI 1000 Genomes Browser:

rs980400591

Molecular consequence:

NM_001316329.2:c.1900C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_002739.5:c.1900C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Spinocerebellar ataxia type 14 (SCA14)
Synonyms:: Spinocerebellar Ataxia Type14
Identifiers:: MONDO: MONDO:0011540; MedGen: C1854369; Orphanet: 98763; OMIM: 605361

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002320756	Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues	criteria provided, single submitter (ACGS Guidelines, 2020)	Uncertain significance (Jan 4, 2022)	paternal	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002320756

Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues

criteria provided, single submitter

(ACGS Guidelines, 2020)

Uncertain significance
(Jan 4, 2022)

paternal

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues, SCV002320756.1

#	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	paternal	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jan 13, 2025

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