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NM_145239.3(PRRT2):c.-65-2dup AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 17, 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:
RCV000658274.2

Allele description [Variation Report for NM_145239.3(PRRT2):c.-65-2dup]

NM_145239.3(PRRT2):c.-65-2dup

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.-65-2dup
HGVS:
  • NC_000016.10:g.29812988dup
  • NG_032039.1:g.5901dup
  • NG_032039.2:g.5797dup
  • NM_001256442.2:c.-65-2dup
  • NM_001256443.2:c.-65-2dup
  • NM_145239.3:c.-65-2dupMANE SELECT
  • NC_000016.9:g.29824309dup
  • NM_145239.2:c.-65-2dupA
Links:
dbSNP: rs1555502538
NCBI 1000 Genomes Browser:
rs1555502538
Molecular consequence:
  • NM_001256442.2:c.-65-2dup - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001256443.2:c.-65-2dup - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_145239.3:c.-65-2dup - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000780045GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(May 17, 2018) 		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, SCV000780045.1

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

Description

A variant of uncertain significance has been identified in the PRRT2 gene. The c.-65-2dupA variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. No data are available from ethnically-matched control populations to assess the frequency of this variant. Several in silico splice prediction models predict that c.-65-2dupA diminishes the natural acceptor site of intron 1 and may lead to abnormal gene splicing. However, in the absence of RNA/functional studies, the actual effect of this sequence change in this individual is unknown. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

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

Last Updated: Oct 14, 2023