NM_145239.3(PRRT2):c.282_283insC (p.Ser95fs) AND Inborn genetic diseases

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 20, 2017
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:: RCV002436628.2

Allele description [Variation Report for NM_145239.3(PRRT2):c.282_283insC (p.Ser95fs)]

NM_145239.3(PRRT2):c.282_283insC (p.Ser95fs)

Genes:

MVP-DT:MVP divergent transcript [Gene - HGNC]
PRRT2:proline rich transmembrane protein 2 [Gene - OMIM - HGNC]

Variant type:

Insertion

Cytogenetic location:

16p11.2

Genomic location:

Preferred name:

NM_145239.3(PRRT2):c.282_283insC (p.Ser95fs)

HGVS:

NC_000016.10:g.29813336_29813337insC
NG_032039.1:g.6249_6250insC
NM_001256442.2:c.282_283insC
NM_001256443.2:c.282_283insC
NM_145239.3:c.282_283insCMANE SELECT
NP_001243371.1:p.Ser95fs
NP_001243372.1:p.Ser95fs
NP_660282.2:p.Ser95fs
NC_000016.9:g.29824657_29824658insC
NM_145239.2:c.282_283insC

Protein change:

S95fs

Links:

dbSNP: rs1900074141

NCBI 1000 Genomes Browser:

rs1900074141

Molecular consequence:

NM_001256442.2:c.282_283insC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001256443.2:c.282_283insC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_145239.3:c.282_283insC - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002746650	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Jul 20, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002746650

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Jul 20, 2017)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV002746650.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The c.282_283insC pathogenic mutation, located in coding exon 1 of the PRRT2 gene, results from an insertion of one nucleotide at position 282, causing a translational frameshift with a predicted alternate stop codon (p.S95Lfs*39). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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