NM_145239.3(PRRT2):c.324_325del (p.Ser110fs) AND not provided

Clinical significance:Pathogenic (Last evaluated: Sep 23, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000378110.1

Allele description [Variation Report for NM_145239.3(PRRT2):c.324_325del (p.Ser110fs)]

NM_145239.3(PRRT2):c.324_325del (p.Ser110fs)

Gene:
PRRT2:proline rich transmembrane protein 2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
16p11.2
Genomic location:
Preferred name:
NM_145239.3(PRRT2):c.324_325del (p.Ser110fs)
HGVS:
  • NC_000016.10:g.29813378_29813379del
  • NG_032039.1:g.6291_6292del
  • NM_001256442.2:c.324_325del
  • NM_001256443.2:c.324_325del
  • NM_145239.3:c.324_325delMANE SELECT
  • NP_001243371.1:p.Ser110fs
  • NP_001243372.1:p.Ser110fs
  • NP_660282.2:p.Ser110fs
  • NC_000016.9:g.29824699_29824700del
  • NM_145239.2:c.324_325del
  • NM_145239.2:c.324_325delAG
Protein change:
S110fs
Links:
dbSNP: rs886042013
NCBI 1000 Genomes Browser:
rs886042013
Molecular consequence:
  • NM_001256442.2:c.324_325del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001256443.2:c.324_325del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_145239.3:c.324_325del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000330842GeneDxcriteria provided, single submitter
Pathogenic
(Sep 23, 2016)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000330842.5

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

Description

The c.324_325delAG pathogenic variant in the PRRT2 gene causes a frameshift starting with codon Serine 110, changes this amino acid to a Glutamine residue and creates a premature Stop codon at position 23 of the new reading frame, denoted p.Ser110GlnfsX23. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Furthermore, 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.

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

Last Updated: Oct 8, 2021

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