NM_002739.5(PRKCG):c.301C>T (p.His101Tyr) AND Spinocerebellar ataxia type 14

Germline classification:: Pathogenic (3 submissions)
Last evaluated:: Feb 28, 2019
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:: RCV000014149.29

Allele description [Variation Report for NM_002739.5(PRKCG):c.301C>T (p.His101Tyr)]

NM_002739.5(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_002739.5(PRKCG):c.301C>T (p.His101Tyr)

HGVS:

NC_000019.10:g.53889653C>T
NG_009114.1:g.12441C>T
NM_001316329.2:c.301C>T
NM_002739.5:c.301C>TMANE SELECT
NP_001303258.1:p.His101Tyr
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_002739.4:c.301C>T
P05129:p.His101Tyr

Nucleotide change:

c.301c>t

Protein change:

H101Y; HIS101TYR

Links:

UniProtKB: P05129#VAR_017060; OMIM: 176980.0001; dbSNP: rs121918511

NCBI 1000 Genomes Browser:

rs121918511

Molecular consequence:

NM_001316329.2:c.301C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_002739.5:c.301C>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
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 classification provided	not provided	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV000996002	Codex Genetics Limited	no assertion criteria provided	Pathogenic (Feb 28, 2019)	germline	provider interpretation	PubMed (4) [See all records that cite these PMIDs] 12164726, 12644968, 17659643, 20301573

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 classification provided

not provided

germline

literature only

PubMed (1)
[See all records that cite this PMID]

SCV000996002

Codex Genetics Limited

no assertion criteria provided

Pathogenic
(Feb 28, 2019)

germline

provider interpretation

PubMed (4)
[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	literature only
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	provider interpretation

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

See all PubMed Citations (4)

Details of each submission

From OMIM, SCV000034397.2

#	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 (SCA14; 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, SCV000058617.4

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

#	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

From Codex Genetics Limited, SCV000996002.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	provider interpretation	PubMed (4)

#	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: Jun 23, 2024

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