NM_000466.3(PEX1):c.760dup (p.Ser254fs) AND Peroxisome biogenesis disorder 1A (Zellweger)

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Apr 11, 2018
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:: RCV000673977.1

Allele description [Variation Report for NM_000466.3(PEX1):c.760dup (p.Ser254fs)]

NM_000466.3(PEX1):c.760dup (p.Ser254fs)

Gene:

PEX1:peroxisomal biogenesis factor 1 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

7q21.2

Genomic location:

Preferred name:

NM_000466.3(PEX1):c.760dup (p.Ser254fs)

HGVS:

NC_000007.14:g.92517760dup
NG_008341.1:g.15777dup
NG_008341.2:g.15777dup
NM_000466.3:c.760dupMANE SELECT
NM_001282677.2:c.760dup
NM_001282678.2:c.136dup
NP_000457.1:p.Ser254fs
NP_001269606.1:p.Ser254fs
NP_001269607.1:p.Ser46fs
NC_000007.13:g.92147074dup
NM_000466.2:c.760dupT

Protein change:

S254fs

Links:

dbSNP: rs1554375511

NCBI 1000 Genomes Browser:

rs1554375511

Molecular consequence:

NM_000466.3:c.760dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001282677.2:c.760dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001282678.2:c.136dup - frameshift variant - [Sequence Ontology: SO:0001589]

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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Homo sapiens dystrobrevin, alpha (DTNA), transcript variant zeta, mRNA
Homo sapiens dystrobrevin, alpha (DTNA), transcript variant zeta, mRNA
gi|14916514|ref|NM_032981.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000799241	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Likely pathogenic (Apr 11, 2018)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000799241

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))

Likely pathogenic
(Apr 11, 2018)

unknown

clinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Zellweger syndrome with severe malnutrition, immunocompromised state and opportunistic infections.

Cardoso P, Amaral ME, Lemos S, Garcia P.

BMJ Case Rep. 2016 Apr 18;2016:10.1136/bcr-2015-214283. doi: 10.1136/bcr-2015-214283.

PubMed [citation]

PMID:: 27090541
PMCID:: PMC4840729

Details of each submission

From Counsyl, SCV000799241.1

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 23, 2022

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