NM_000287.4(PEX6):c.1314_1321del (p.Glu439fs) 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:: RCV001276616.2

Allele description [Variation Report for NM_000287.4(PEX6):c.1314_1321del (p.Glu439fs)]

NM_000287.4(PEX6):c.1314_1321del (p.Glu439fs)

Gene:

PEX6:peroxisomal biogenesis factor 6 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

6p21.1

Genomic location:

Preferred name:

NM_000287.4(PEX6):c.1314_1321del (p.Glu439fs)

HGVS:

NC_000006.12:g.42969720_42969727del
NG_008370.1:g.14523_14530del
NM_000287.4:c.1314_1321delMANE SELECT
NM_001316313.2:c.1050_1057del
NP_000278.3:p.Glu439fs
NP_001303242.1:p.Glu351fs
NC_000006.11:g.42937452_42937459del
NC_000006.11:g.42937458_42937465del
NM_000287.3:c.1314_1321del
NM_000287.3:c.1314_1321delGGAGGCCT
NM_000287.4:c.1314_1321delGGAGGCCTMANE SELECT
NR_133009.2:n.1345_1352del

Protein change:

E351fs

Links:

dbSNP: rs267608216

NCBI 1000 Genomes Browser:

rs267608216

Molecular consequence:

NM_000287.4:c.1314_1321del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001316313.2:c.1050_1057del - frameshift variant - [Sequence Ontology: SO:0001589]
NR_133009.2:n.1345_1352del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV001463068	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

SCV001463068

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., SCV001463068.1

#	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: Nov 30, 2024

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