NM_002739.5(PRKCG):c.300_305del (p.His101_Lys102del) AND Spinocerebellar ataxia type 14

Germline classification:: Pathogenic (1 submission)
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:: RCV000034984.3

Allele description [Variation Report for NM_002739.5(PRKCG):c.300_305del (p.His101_Lys102del)]

NM_002739.5(PRKCG):c.300_305del (p.His101_Lys102del)

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.300_305del (p.His101_Lys102del)

HGVS:

NC_000019.10:g.53889652_53889657del
NG_009114.1:g.12440_12445del
NM_001316329.2:c.300_305del
NM_002739.5:c.300_305delMANE SELECT
NP_001303258.1:p.His101_Lys102del
NP_002730.1:p.His101_Lys102del
LRG_669:g.12440_12445del
NC_000019.9:g.54392906_54392911del

Nucleotide change:

c.296-301del

Links:

dbSNP: rs386134161

NCBI 1000 Genomes Browser:

rs386134161

Molecular consequence:

NM_001316329.2:c.300_305del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_002739.5:c.300_305del - inframe_deletion - [Sequence Ontology: SO:0001822]

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
SCV000058612	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

SCV000058612

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	curation

Details of each submission

From GeneReviews, SCV000058612.2

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

Description

Converted during submission to Pathogenic.

#	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: Apr 23, 2022

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