NM_145239.3(PRRT2):c.433dup (p.Arg145fs) AND not provided

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Oct 1, 2021
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000188785.23

Allele description [Variation Report for NM_145239.3(PRRT2):c.433dup (p.Arg145fs)]

NM_145239.3(PRRT2):c.433dup (p.Arg145fs)

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.433dup (p.Arg145fs)

HGVS:

NC_000016.10:g.29813487dup
NG_032039.1:g.6400dup
NM_001256442.2:c.433dup
NM_001256443.2:c.433dup
NM_145239.3:c.433dupMANE SELECT
NP_001243371.1:p.Arg145fs
NP_001243372.1:p.Arg145fs
NP_660282.2:p.Arg145fs
NC_000016.9:g.29824808dup
NM_145239.2:c.433dupC
p.R145PfsX25

Protein change:

R145fs

Links:

dbSNP: rs796052944

NCBI 1000 Genomes Browser:

rs796052944

Molecular consequence:

NM_001256442.2:c.433dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001256443.2:c.433dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_145239.3:c.433dup - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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TREML2 triggering receptor expressed on myeloid cells like 2 [Homo sapiens]
TREML2 triggering receptor expressed on myeloid cells like 2 [Homo sapiens]
Gene ID:79865

Gene
79865[uid] AND (alive[prop]) (1)
Gene
Chain C, 30S ribosomal protein S3
Chain C, 30S ribosomal protein S3
gi|1227487100|pdb|5NJT|C

Protein
Chain u, 50S ribosomal protein L28
Chain u, 50S ribosomal protein L28
gi|1938945003|pdb|5NJT|u

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000242409	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Oct 8, 2014)	germline	clinical testing	Citation Link,
SCV001501610	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Pathogenic (Oct 1, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000242409

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Oct 8, 2014)

germline

clinical testing

Citation Link,

SCV001501610

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Pathogenic
(Oct 1, 2021)

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	2	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000242409.3

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

Description

c.433dupC: p.Arg145ProfsX25 (R145PfsX25) in exon 2 of the PRRT2 gene (NM_145239.2). The normal sequence with the base that is duplicated in braces is: ACCCC{C}GGCC. The c.433dupC mutation in the PRRT2 gene causes a frameshift starting with codon Arginine 145, changes this amino acid to a Proline residue and creates a premature Stop codon at position 25 of the new reading frame, denoted p.Arg145ProfsX25. This mutation is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Although this mutation has not been previously reported to our knowledge, a deletion at the same position (c.433delC) has been reported in association with PRRT2-related disorders (Cloarec et al., 2012), and other frameshift mutations in this region of the PRRT2 gene have been reported in association with PRRT2-related disorders. The variant is found in INFANT-EPI panel(s).

#	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

From CeGaT Center for Human Genetics Tuebingen, SCV001501610.23

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	not provided	not provided	clinical testing	not provided

#	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		2	not provided	not provided	not provided

Last Updated: Oct 20, 2024

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