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NM_145239.3(PRRT2):c.191_207dup (p.Glu70fs) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 13, 2016
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:
RCV000311228.1

Allele description [Variation Report for NM_145239.3(PRRT2):c.191_207dup (p.Glu70fs)]

NM_145239.3(PRRT2):c.191_207dup (p.Glu70fs)

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.191_207dup (p.Glu70fs)
HGVS:
  • NC_000016.10:g.29813245_29813261dup
  • NG_032039.1:g.6158_6174dup
  • NM_001256442.2:c.191_207dup
  • NM_001256443.2:c.191_207dup
  • NM_145239.3:c.191_207dupMANE SELECT
  • NP_001243371.1:p.Glu70fs
  • NP_001243372.1:p.Glu70fs
  • NP_660282.2:p.Glu70fs
  • NC_000016.9:g.29824566_29824582dup
  • NM_145239.2:c.191_207dupAGGCTGGGCTGGCTCCA
Protein change:
E70fs
Links:
dbSNP: rs886041735
NCBI 1000 Genomes Browser:
rs886041735
Molecular consequence:
  • NM_001256442.2:c.191_207dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001256443.2:c.191_207dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_145239.3:c.191_207dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000330474GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(May 13, 2016) 		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, SCV000330474.4

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

Description

The c.191_207dup17 pathogenic variant in the PRRT2 gene causes a frameshift starting with codon Glutamic acid 70, changes this amino acid to a Arginine residue and creates a premature Stop codon at position 26 of the new reading frame, denoted p.E70RfsX26. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Although this pathogenic variant has not been previously reported to our knowledge, other frameshift variants have been reported in Human Gene Mutation Database in association with PRRT2-related disorders (Stenson et al., 2014).

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

Last Updated: Oct 14, 2023