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NM_145239.3(PRRT2):c.879+5G>A AND Seizures, benign familial infantile, 2

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 13, 2012
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:
RCV000024171.8

Allele description [Variation Report for NM_145239.3(PRRT2):c.879+5G>A]

NM_145239.3(PRRT2):c.879+5G>A

Genes:
MVP-DT:MVP divergent transcript [Gene - HGNC]
PRRT2:proline rich transmembrane protein 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16p11.2
Genomic location:
Preferred name:
NM_145239.3(PRRT2):c.879+5G>A
HGVS:
  • NC_000016.10:g.29813938G>A
  • NG_032039.1:g.6851G>A
  • NM_001256442.2:c.879+5G>A
  • NM_001256443.2:c.884G>A
  • NM_145239.3:c.879+5G>AMANE SELECT
  • NP_001243372.1:p.Ser295Asn
  • NC_000016.9:g.29825259G>A
  • NM_145239.2:c.879+5G>A
Note:
ClinGen staff contributed the HGVS expression for this variant.
Nucleotide change:
IVS2DS, G-A, +5
Protein change:
S295N
Links:
OMIM: 614386.0006; dbSNP: rs1596893185
NCBI 1000 Genomes Browser:
rs1596893185
Molecular consequence:
  • NM_001256442.2:c.879+5G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_145239.3:c.879+5G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001256443.2:c.884G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Seizures, benign familial infantile, 2 (BFIS2)
Synonyms:
CONVULSIONS, BENIGN FAMILIAL INFANTILE, 2
Identifiers:
MONDO: MONDO:0011593; MedGen: C1853995; Orphanet: 306; OMIM: 605751

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000045462OMIM
no assertion criteria provided
Pathogenic
(Jan 13, 2012) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

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, Gécz 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

Details of each submission

From OMIM, SCV000045462.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In affected members of a large family with benign familial infantile seizures-2 (BFIS2; 605751), Heron et al. (2012) identified a heterozygous G-to-A transition in intron 2 of the PRRT2 gene (879+5G-A), which reduces the splice site score.

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

Last Updated: Mar 10, 2024