NM_003690.5(PRKRA):c.785-2_785-1insATATTTGGATAT AND Dystonia 16

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 18, 2016
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:: RCV000490410.1

Allele description [Variation Report for NM_003690.5(PRKRA):c.785-2_785-1insATATTTGGATAT]

NM_003690.5(PRKRA):c.785-2_785-1insATATTTGGATAT

Genes:

CHROMR:cholesterol induced regulator of metabolism RNA [Gene - HGNC]
PRKRA:protein activator of interferon induced protein kinase EIF2AK2 [Gene - OMIM - HGNC]

Variant type:

Insertion

Cytogenetic location:

2q31.2

Genomic location:

Preferred name:

NM_003690.5(PRKRA):c.785-2_785-1insATATTTGGATAT

HGVS:

NC_000002.12:g.178432256_178432257insATATCCAAATAT
NG_009053.1:g.23976_23977insTATTTGGATATA
NM_001139517.1:c.752-2_752-1insATATTTGGATAT
NM_001139518.1:c.710-2_710-1insATATTTGGATAT
NM_001316362.2:c.446-2_446-1insATATTTGGATAT
NM_003690.5:c.785-2_785-1insATATTTGGATATMANE SELECT
NC_000002.11:g.179296983_179296984insATATCCAAATAT
NM_001139517.1:c.752-2_752-1insTATTTGGATATA

Links:

dbSNP: rs751875722

NCBI 1000 Genomes Browser:

rs751875722

Molecular consequence:

NM_001139517.1:c.752-2_752-1insATATTTGGATAT - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001139518.1:c.710-2_710-1insATATTTGGATAT - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001316362.2:c.446-2_446-1insATATTTGGATAT - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_003690.5:c.785-2_785-1insATATTTGGATAT - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Name:: Dystonia 16 (DYT16)
Synonyms:: DYT-PRKRA
Identifiers:: MONDO: MONDO:0012789; MedGen: C2677567; Orphanet: 210571; OMIM: 612067

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000267462	Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Mar 18, 2016)	germline	reference population	PubMed (2) [See all records that cite these PMIDs] 18243799, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000267462

Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Mar 18, 2016)

germline

reference population

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
East Asian	germline	unknown	3	not provided	not provided	not provided	not provided	reference population

Citations

PubMed

DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA.

Camargos S, Scholz S, Simón-Sánchez J, Paisán-Ruiz C, Lewis P, Hernandez D, Ding J, Gibbs JR, Cookson MR, Bras J, Guerreiro R, Oliveira CR, Lees A, Hardy J, Cardoso F, Singleton AB.

Lancet Neurol. 2008 Mar;7(3):207-15. doi: 10.1016/S1474-4422(08)70022-X. Epub 2008 Feb 1.

PubMed [citation]

PMID:: 18243799

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center, SCV000267462.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	East Asian	3	not provided	not provided	reference population	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		3	not provided	not provided	not provided

Last Updated: Apr 23, 2022

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