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NM_145239.3(PRRT2):c.638G>A (p.Gly213Glu) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 13, 2013
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:
RCV000188766.3

Allele description [Variation Report for NM_145239.3(PRRT2):c.638G>A (p.Gly213Glu)]

NM_145239.3(PRRT2):c.638G>A (p.Gly213Glu)

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.638G>A (p.Gly213Glu)
Other names:
p.G213E:GGG>GAG
HGVS:
  • NC_000016.10:g.29813692G>A
  • NG_032039.1:g.6605G>A
  • NM_001256442.2:c.638G>A
  • NM_001256443.2:c.638G>A
  • NM_145239.3:c.638G>AMANE SELECT
  • NP_001243371.1:p.Gly213Glu
  • NP_001243372.1:p.Gly213Glu
  • NP_660282.2:p.Gly213Glu
  • NC_000016.9:g.29825013G>A
  • NM_145239.2:c.638G>A
Protein change:
G213E
Links:
dbSNP: rs796052935
NCBI 1000 Genomes Browser:
rs796052935
Molecular consequence:
  • NM_001256442.2:c.638G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001256443.2:c.638G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_145239.3:c.638G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000242390GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Dec 13, 2013) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000242390.10

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

p.Gly213Glu (G213E) GGG>GAG: c.638 G>A in exon 2 of the PRRT2 gene (NM_145239.2)The G213E missense change in the PRRT2 gene has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. This variant is a non-conservative amino acid substitution of an uncharged, non-polar Glycine residue with a negatively charged Glutamic acid residue at a position that is conserved in mammals. In silico analysis is inconsistent with regard to the effect this variant may have on the protein structure/function. Some individuals with PRRT2 mutations never develop seizures due to incomplete penetrance. This variant has been onserved to be paternally inherited from an apparently unaffected father; The variant is found in EPILEPSY panel(s).

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

Last Updated: Oct 14, 2023