NM_198859.4(PRICKLE2):c.380del (p.Gly127fs) AND Progressive myoclonic epilepsy type 5

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 16, 2013
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:: RCV000191122.1

Allele description [Variation Report for NM_198859.4(PRICKLE2):c.380del (p.Gly127fs)]

NM_198859.4(PRICKLE2):c.380del (p.Gly127fs)

Gene:

PRICKLE2:prickle planar cell polarity protein 2 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

3p14.1

Genomic location:

Preferred name:

NM_198859.4(PRICKLE2):c.380del (p.Gly127fs)

HGVS:

NC_000003.12:g.64159957del
NG_031930.1:g.70500del
NM_001370528.1:c.380del
NM_198859.4:c.380delMANE SELECT
NP_001357457.1:p.Gly127fs
NP_942559.1:p.Gly127fs
NC_000003.11:g.64145633del
NM_198859.3:c.380delG

Protein change:

G127fs

Links:

dbSNP: rs797045065

NCBI 1000 Genomes Browser:

rs797045065

Molecular consequence:

NM_001370528.1:c.380del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_198859.4:c.380del - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

Condition(s)

Name:: Progressive myoclonic epilepsy type 5
Identifiers:: MedGen: C5190799; Orphanet: 402082

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000245529	Baylor Genetics - Adult_WES	criteria provided, single submitter (Yang et al. 2013)	Pathogenic (May 16, 2013)	de novo	clinical testing	PubMed (2) [See all records that cite these PMIDs] 24088041, 26633545

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000245529

Baylor Genetics - Adult_WES

criteria provided, single submitter

(Yang et al. 2013)

Pathogenic
(May 16, 2013)

de novo

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	yes	1	1	not provided	not provided	not provided	clinical testing

Citations

PubMed

Clinical whole-exome sequencing for the diagnosis of mendelian disorders.

Yang Y, Muzny DM, Reid JG, Bainbridge MN, Willis A, Ward PA, Braxton A, Beuten J, Xia F, Niu Z, Hardison M, Person R, Bekheirnia MR, Leduc MS, Kirby A, Pham P, Scull J, Wang M, Ding Y, Plon SE, Lupski JR, Beaudet AL, et al.

N Engl J Med. 2013 Oct 17;369(16):1502-11. doi: 10.1056/NEJMoa1306555. Epub 2013 Oct 2.

PubMed [citation]

PMID:: 24088041
PMCID:: PMC4211433

Molecular diagnostic experience of whole-exome sequencing in adult patients.

Posey JE, Rosenfeld JA, James RA, Bainbridge M, Niu Z, Wang X, Dhar S, Wiszniewski W, Akdemir ZH, Gambin T, Xia F, Person RE, Walkiewicz M, Shaw CA, Sutton VR, Beaudet AL, Muzny D, Eng CM, Yang Y, Gibbs RA, Lupski JR, Boerwinkle E, et al.

Genet Med. 2016 Jul;18(7):678-85. doi: 10.1038/gim.2015.142. Epub 2015 Dec 3.

PubMed [citation]

PMID:: 26633545
PMCID:: PMC4892996

Details of each submission

From Baylor Genetics - Adult_WES, SCV000245529.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing (GTR000508680.4)	PubMed (2)

Description

This frameshift variant is categorized as deleterious according to ACMG guidelines (PMID:18414213) and was found once in our laboratory de novo in a 20-year-old female with intellectual disability, epilepsy, and anxiety

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	de novo	yes	not provided	not provided	not provided	(GTR000508680.4)	1	not provided	1	not provided

Last Updated: Feb 25, 2023

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