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NM_145239.3(PRRT2):c.649dup (p.Arg217fs) AND Inborn genetic diseases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 20, 2018
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:
RCV002313738.8

Allele description

NM_145239.3(PRRT2):c.649dup (p.Arg217fs)

Genes:
MVP-DT:MVP divergent transcript [Gene - HGNC]
PRRT2:proline rich transmembrane protein 2 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
16p11.2
Genomic location:
Preferred name:
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
HGVS:
  • NC_000016.10:g.29813703dup
  • NG_032039.1:g.6616dup
  • NM_001256442.2:c.649dup
  • NM_001256443.2:c.649dup
  • NM_145239.3:c.649dupMANE SELECT
  • NP_001243371.1:p.Arg217fs
  • NP_001243372.1:p.Arg217fs
  • NP_660282.2:p.Arg217fs
  • NC_000016.9:g.29825015_29825016insC
  • NC_000016.9:g.29825024dup
  • NM_001256442.1:c.649dup
  • NM_001256442.1:c.649dupC
  • NM_001256442.2:c.649dup
  • NM_001256443.1:c.649dupC
  • NM_145239.2:c.649_650insC
  • NM_145239.2:c.649dupC
  • NM_145239.3:c.640_641insCMANE SELECT
  • NM_145239.3:c.649dupCMANE SELECT
  • p.Arg217Profs*8
  • p.Arg217ProfsX8
  • p.R217PfsX8
  • NP_660282.2:p.Arg217Profs*8
Nucleotide change:
649_650insC
Protein change:
R217fs
Links:
OMIM: 614386.0001
Molecular consequence:
  • NM_001256442.2:c.649dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001256443.2:c.649dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_145239.3:c.649dup - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000849074Ambry Genetics
criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)
Pathogenic
(Apr 20, 2018)
germlineclinical testing

PubMed (5)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Citations

PubMed

Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia.

Chen WJ, Lin Y, Xiong ZQ, Wei W, Ni W, Tan GH, Guo SL, He J, Chen YF, Zhang QJ, Li HF, Lin Y, Murong SX, Xu J, Wang N, Wu ZY.

Nat Genet. 2011 Nov 20;43(12):1252-5. doi: 10.1038/ng.1008.

PubMed [citation]
PMID:
22101681

PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome.

Heron SE, Grinton BE, Kivity S, Afawi Z, Zuberi SM, Hughes JN, Pridmore C, Hodgson BL, Iona X, Sadleir LG, Pelekanos J, Herlenius E, Goldberg-Stern H, Bassan H, Haan E, Korczyn AD, Gardner AE, Corbett MA, G├ęcz J, Thomas PQ, Mulley JC, Berkovic SF, et al.

Am J Hum Genet. 2012 Jan 13;90(1):152-60. doi: 10.1016/j.ajhg.2011.12.003.

PubMed [citation]
PMID:
22243967
PMCID:
PMC3257886
See all PubMed Citations (5)

Details of each submission

From Ambry Genetics, SCV000849074.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (5)

Description

The c.649dupC pathogenic mutation, located in coding exon 1 of the PRRT2 gene, results from a duplication of C at nucleotide position 649, causing a translational frameshift with a predicted alternate stop codon (p.R217Pfs*8). This alteration has been detected in many families in the literature with paroxysmal kinesigenic dyskinesia with infantile convulsions (PKD or PKC), familial infantile convulsions and paroxysmal choreoathetosis (ICCA), and benign familial infantile seizures or epilepsy (BFIS or BFIE) (Chen WJ et al. Nat Genet. 2011; 43(12):1252-5; Heron SE et al. Am J Hum Genet. 2012; 90(1):152-60; Lee HY et al. Cell Rep. 2012; 1(1):2-12; Ono S et al. J Hum Genet. 2012; 57(5):338-41; Wang Y et al. Sci Rep, 2017 Jan;7:40319). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Apr 20, 2024