NM_145239.3(PRRT2):c.324_325del (p.Ser110fs) AND Episodic kinesigenic dyskinesia

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

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 19, 2019
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:: RCV001045357.2

Allele description

NM_145239.3(PRRT2):c.324_325del (p.Ser110fs)

Gene:

PRRT2:proline rich transmembrane protein 2 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

16p11.2

Genomic location:

Preferred name:

NM_145239.3(PRRT2):c.324_325del (p.Ser110fs)

HGVS:

NC_000016.10:g.29813378_29813379del
NG_032039.1:g.6291_6292del
NM_001256442.2:c.324_325del
NM_001256443.2:c.324_325del
NM_145239.3:c.324_325delMANE SELECT
NP_001243371.1:p.Ser110fs
NP_001243372.1:p.Ser110fs
NP_660282.2:p.Ser110fs
NC_000016.9:g.29824699_29824700del
NM_145239.2:c.324_325del
NM_145239.2:c.324_325delAG

Protein change:

S110fs

Links:

dbSNP: rs886042013

NCBI 1000 Genomes Browser:

rs886042013

Molecular consequence:

NM_001256442.2:c.324_325del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001256443.2:c.324_325del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_145239.3:c.324_325del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Episodic kinesigenic dyskinesia (EKD)
Synonyms:: Familial paroxysmal dystonia; Paroxysmal kinesigenic dyskinesia
Identifiers:: MONDO: MONDO:0044202; MedGen: C1868682; Orphanet: 98809; OMIM: PS128200

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001209202	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Dec 19, 2019)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 22623405, 22744660, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001209202

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Dec 19, 2019)

germline

clinical testing

PubMed (3)
[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	clinical testing

Citations

PubMed

PRRT2 mutations are the major cause of benign familial infantile seizures.

Schubert J, Paravidino R, Becker F, Berger A, Bebek N, Bianchi A, Brockmann K, Capovilla G, Dalla Bernardina B, Fukuyama Y, Hoffmann GF, Jurkat-Rott K, Anttonen AK, Kurlemann G, Lehesjoki AE, Lehmann-Horn F, Mastrangelo M, Mause U, Müller S, Neubauer B, Püst B, Rating D, et al.

Hum Mutat. 2012 Oct;33(10):1439-43. doi: 10.1002/humu.22126. Epub 2012 Jun 11.

PubMed [citation]

PMID:: 22623405

PRRT2 mutations: a major cause of paroxysmal kinesigenic dyskinesia in the European population.

Méneret A, Grabli D, Depienne C, Gaudebout C, Picard F, Dürr A, Lagroua I, Bouteiller D, Mignot C, Doummar D, Anheim M, Tranchant C, Burbaud P, Jedynak CP, Gras D, Steschenko D, Devos D, Billette de Villemeur T, Vidailhet M, Brice A, Roze E.

Neurology. 2012 Jul 10;79(2):170-4. doi: 10.1212/WNL.0b013e31825f06c3. Epub 2012 Jun 27.

PubMed [citation]

PMID:: 22744660

See all PubMed Citations (3)

Details of each submission

From Invitae, SCV001209202.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

This sequence change creates a premature translational stop signal (p.Ser110Glnfs*23) in the PRRT2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with PRRT2-related conditions. ClinVar contains an entry for this variant (Variation ID: 280888). Loss-of-function variants in PRRT2 are known to be pathogenic (PMID: 22623405, 22744660). For these reasons, this variant has been classified as Pathogenic.

#	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

Last Updated: Apr 23, 2022

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