NM_000318.3(PEX2):c.339_345del (p.Gly113_Arg114insTer) AND Zellweger spectrum disorders

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 16, 2020
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV001275873.1

Allele description [Variation Report for NM_000318.3(PEX2):c.339_345del (p.Gly113_Arg114insTer)]

NM_000318.3(PEX2):c.339_345del (p.Gly113_Arg114insTer)

Gene:

PEX2:peroxisomal biogenesis factor 2 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

8q21.13

Genomic location:

Preferred name:

NM_000318.3(PEX2):c.339_345del (p.Gly113_Arg114insTer)

HGVS:

NC_000008.10:g.77896070_77896076del
NC_000008.11:g.76983839_76983845del
NG_008371.1:g.21449_21455del
NM_000318.3:c.339_345delMANE SELECT
NM_001079867.2:c.339_345del
NM_001172086.2:c.339_345del
NM_001172087.2:c.339_345del
NP_000309.2:p.Gly113_Arg114insTer
NP_001073336.2:p.Gly113_Arg114insTer
NP_001165557.2:p.Gly113_Arg114insTer
NP_001165558.2:p.Gly113_Arg114insTer
NC_000008.10:g.77896070_77896076del
NC_000008.10:g.77896070_77896076delCCACCTG
NC_000008.10:g.77896075_77896081del
NM_000318.2:c.339_345del
NM_000318.2:c.339_345delCAGGTGG
NM_000318.3:c.339_345delCAGGTGGMANE SELECT

Links:

dbSNP: rs764771123

NCBI 1000 Genomes Browser:

rs764771123

Molecular consequence:

NM_000318.3:c.339_345del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001079867.2:c.339_345del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001172086.2:c.339_345del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001172087.2:c.339_345del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Zellweger spectrum disorders (ZS)
Synonyms:: Zellweger syndrome; Zellweger Spectrum Disorder; Zellweger Spectrum
Identifiers:: MONDO: MONDO:0019609; MedGen: C0043459; Orphanet: 912

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001461520	Natera, Inc.	no assertion criteria provided	Pathogenic (Sep 16, 2020)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001461520

Natera, Inc.

no assertion criteria provided

Pathogenic
(Sep 16, 2020)

germline

clinical testing

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 Natera, Inc., SCV001461520.1

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

Last Updated: Sep 29, 2024

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