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

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 23, 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:: 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)

Genes:

MVP-DT:MVP divergent transcript [Gene - HGNC]
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_000016.10:g.29813378_29813379delAG
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)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000330842	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Sep 23, 2016)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000330842

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Sep 23, 2016)

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000330842.5

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

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

Last Updated: Feb 20, 2024

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