NM_002739.4(PRKCG):c.301C>T (p.His101Tyr) AND Spinocerebellar ataxia 14

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

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Apr 18, 2013
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000014149.24

Allele description

NM_002739.4(PRKCG):c.301C>T (p.His101Tyr)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.42

Genomic location:

Preferred name:

NM_002739.4(PRKCG):c.301C>T (p.His101Tyr)

HGVS:

NC_000019.10:g.53889653C>T
NG_009114.1:g.12441C>T
NM_002739.4:c.301C>T
NP_002730.1:p.His101Tyr
LRG_669t1:c.301C>T
LRG_669:g.12441C>T
LRG_669p1:p.His101Tyr
NC_000019.9:g.54392907C>T
NM_002739.3:c.301C>T

Nucleotide change:

c.301c>t

Protein change:

H101Y; HIS101TYR

Links:

OMIM: 176980.0001; dbSNP: rs121918511

NCBI 1000 Genomes Browser:

rs121918511

Molecular consequence:

NM_002739.4:c.301C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Spinocerebellar ataxia 14 (SCA14)
Synonyms:: Spinocerebellar Ataxia Type14
Identifiers:: MedGen: C1854369; Orphanet: 98763; OMIM: 605361
Prevalence:: <1 / 1 000 000 98763

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000034397	OMIM	no assertion criteria provided	Pathogenic (Apr 1, 2003)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 12164726, 12644968
SCV000058617	GeneReviews	no assertion criteria provided	pathologic (Apr 18, 2013)	not provided	curation

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000034397

OMIM

no assertion criteria provided

Pathogenic
(Apr 1, 2003)

germline

literature only

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

SCV000058617

GeneReviews

no assertion criteria provided

pathologic
(Apr 18, 2013)

not provided

curation

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	not provided	not provided	not provided	not provided	not provided	not provided	not provided	literature only
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

A new dominant spinocerebellar ataxia linked to chromosome 19q13.4-qter.

Brkanac Z, Bylenok L, Fernandez M, Matsushita M, Lipe H, Wolff J, Nochlin D, Raskind WH, Bird TD.

Arch Neurol. 2002 Aug;59(8):1291-5. Erratum in: Arch Neurol 2002 Dec;59(12):1972.

PubMed [citation]

PMID:: 12164726

Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant nonepisodic cerebellar ataxia.

Chen DH, Brkanac Z, Verlinde CL, Tan XJ, Bylenok L, Nochlin D, Matsushita M, Lipe H, Wolff J, Fernandez M, Cimino PJ, Bird TD, Raskind WH.

Am J Hum Genet. 2003 Apr;72(4):839-49. Epub 2003 Mar 17.

PubMed [citation]

PMID:: 12644968
PMCID:: PMC1180348

Details of each submission

From OMIM, SCV000034397.1

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

Description

In affected members of a family segregating spinocerebellar ataxia-14 (605361) reported by Brkanac et al. (2002), Chen et al. (2003) identified a 301C-T transition in exon 4 of the PRKCG gene, predicting a substitution of hydrophilic tyrosine for hydrophobic histidine at codon 101 (his101 to tyr; H101Y).

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

From GeneReviews, SCV000058617.2

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

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

Last Updated: Aug 29, 2016

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