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

Clinical significance:Pathogenic (Last evaluated: Dec 19, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001045357.2

Allele description [Variation Report for NM_145239.3(PRRT2):c.324_325del (p.Ser110fs)]

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

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001209202Invitaecriteria provided, single submitter
Pathogenic
(Dec 19, 2019)
germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical 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

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical 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.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 7, 2021

Support Center