NM_000466.3(PEX1):c.3579del (p.Asp1194fs) AND Peroxisome biogenesis disorder 1A (Zellweger)

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 16, 2017
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:: RCV000578315.5

Allele description [Variation Report for NM_000466.3(PEX1):c.3579del (p.Asp1194fs)]

NM_000466.3(PEX1):c.3579del (p.Asp1194fs)

Genes:

GATAD1:GATA zinc finger domain containing 1 [Gene - OMIM - HGNC]
PEX1:peroxisomal biogenesis factor 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

7q21.2

Genomic location:

Preferred name:

NM_000466.3(PEX1):c.3579del (p.Asp1194fs)

HGVS:

NC_000007.14:g.92489771del
NG_008341.2:g.43761del
NM_000466.3:c.3579delMANE SELECT
NM_001282677.2:c.3408del
NM_001282678.2:c.2955del
NP_000457.1:p.Asp1194fs
NP_001269606.1:p.Asp1137fs
NP_001269607.1:p.Asp986fs
NC_000007.13:g.92119085del
NG_008341.1:g.43761del

Protein change:

D1137fs

Links:

dbSNP: rs1554366802

NCBI 1000 Genomes Browser:

rs1554366802

Molecular consequence:

NM_000466.3:c.3579del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001282677.2:c.3408del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001282678.2:c.2955del - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

Condition(s)

Name:: Peroxisome biogenesis disorder 1A (Zellweger) (PBD1A)
Synonyms:: Zellweger leukodystrophy; Peroxisome biogenesis disorder 1a
Identifiers:: MONDO: MONDO:0008953; MedGen: C4721541; OMIM: 214100

Recent activity

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RecName: Full=E3 ubiquitin-protein ligase RNF139; AltName: Full=RING finger prot...
RecName: Full=E3 ubiquitin-protein ligase RNF139; AltName: Full=RING finger protein 139; AltName: Full=RING-type E3 ubiquitin transferase RNF139; AltName: Full=Translocation in renal carcinoma on chromosome 8 protein
gi|74760542|sp|Q8WU17.1|RN139_HUMAN

Protein
RecName: Full=Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-3; ...
RecName: Full=Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-3; AltName: Full=Transducin beta chain 3
gi|121011|sp|P16520.1|GBB3_HUMAN

Protein
RecName: Full=Adhesion G protein-coupled receptor A2; AltName: Full=G-protein co...
RecName: Full=Adhesion G protein-coupled receptor A2; AltName: Full=G-protein coupled receptor 124; AltName: Full=Tumor endothelial marker 5; Flags: Precursor
gi|221222450|sp|Q96PE1.2|AGRA2_HUMA

Protein
RecName: Full=Protein Wnt-2; AltName: Full=Int-1-like protein 1; AltName: Full=I...
RecName: Full=Protein Wnt-2; AltName: Full=Int-1-like protein 1; AltName: Full=Int-1-related protein; Short=IRP; Flags: Precursor
gi|139750|sp|P09544.1|WNT2_HUMAN

Protein
RecName: Full=RPE-retinal G protein-coupled receptor
RecName: Full=RPE-retinal G protein-coupled receptor
gi|1350592|sp|P47804.1|RGR_HUMAN

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000680329	Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München	criteria provided, single submitter (Classification criteria August 2017)	Pathogenic (Nov 16, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000680329

Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München

criteria provided, single submitter

(Classification criteria August 2017)

Pathogenic
(Nov 16, 2017)

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	1	not provided	not provided	1	not provided	clinical testing

Details of each submission

From Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München, SCV000680329.1

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

Last Updated: Jun 23, 2024

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