NM_145239.3(PRRT2):c.629dup (p.Ala211fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 23, 2022
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:: RCV000188767.12

Allele description [Variation Report for NM_145239.3(PRRT2):c.629dup (p.Ala211fs)]

NM_145239.3(PRRT2):c.629dup (p.Ala211fs)

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.629dup (p.Ala211fs)

HGVS:

NC_000016.10:g.29813683dup
NG_032039.1:g.6596dup
NM_001256442.2:c.629dup
NM_001256443.2:c.629dup
NM_145239.3:c.629dupMANE SELECT
NP_001243371.1:p.Ala211fs
NP_001243372.1:p.Ala211fs
NP_660282.2:p.Ala211fs
NC_000016.10:g.29813676_29813677insC
NC_000016.9:g.29824997_29824998insC
NC_000016.9:g.29825004dup
NM_145239.2:c.629dup
NM_145239.2:c.629dupC
p.A211SfsX14

Protein change:

A211fs

Links:

OMIM: 614386.0004; dbSNP: rs730882067

NCBI 1000 Genomes Browser:

rs730882067

Molecular consequence:

NM_001256442.2:c.629dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001256443.2:c.629dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_145239.3:c.629dup - 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
SCV000242391	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Jun 23, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000242391

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Pathogenic
(Jun 23, 2022)

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, SCV000242391.10

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

Description

Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 30125676, 27173777, 24465263, 25667815, 23363396, 25502464, 22744660, 22243967, 29215089)

#	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: Apr 20, 2024

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