NM_000318.3(PEX2):c.188dup (p.Trp65fs) AND Peroxisome biogenesis disorder 5A (Zellweger)

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jan 28, 2022
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:: RCV003476813.1

Allele description [Variation Report for NM_000318.3(PEX2):c.188dup (p.Trp65fs)]

NM_000318.3(PEX2):c.188dup (p.Trp65fs)

Gene:

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

Variant type:

Duplication

Cytogenetic location:

8q21.13

Genomic location:

Preferred name:

NM_000318.3(PEX2):c.188dup (p.Trp65fs)

HGVS:

NC_000008.11:g.76983994dup
NG_008371.1:g.21298dup
NG_008371.2:g.22053dup
NM_000318.2:c.188dup
NM_000318.3:c.188dupMANE SELECT
NM_001079867.2:c.188dup
NM_001172086.2:c.188dup
NM_001172087.2:c.188dup
NP_000309.2:p.Trp65fs
NP_001073336.2:p.Trp65fs
NP_001165557.2:p.Trp65fs
NP_001165558.2:p.Trp65fs
NC_000008.10:g.77896230dup

Protein change:

W65fs

Molecular consequence:

NM_000318.3:c.188dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001079867.2:c.188dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001172086.2:c.188dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001172087.2:c.188dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Peroxisome biogenesis disorder 5A (Zellweger) (PBD5A)
Identifiers:: MONDO: MONDO:0013932; MedGen: C3553940; Orphanet: 912; OMIM: 614866

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004201494	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Jan 28, 2022)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004201494

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Jan 28, 2022)

unknown

clinical testing

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

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

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Baylor Genetics, SCV004201494.1

#	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: Dec 30, 2023

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