NM_001127649.3(PEX26):c.192_216del (p.Ser64fs) AND Peroxisome biogenesis disorder 7A (Zellweger)

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 21, 2023
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:: RCV003476819.1

Allele description [Variation Report for NM_001127649.3(PEX26):c.192_216del (p.Ser64fs)]

NM_001127649.3(PEX26):c.192_216del (p.Ser64fs)

Gene:

PEX26:peroxisomal biogenesis factor 26 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

22q11.21

Genomic location:

Preferred name:

NM_001127649.3(PEX26):c.192_216del (p.Ser64fs)

HGVS:

NC_000022.11:g.18078568_18078592del
NG_008339.1:g.5649_5673del
NG_008339.2:g.5580_5604del
NM_001127649.3:c.192_216delMANE SELECT
NM_001199319.2:c.192_216del
NM_017929.6:c.192_216del
NP_001121121.1:p.Ser64fs
NP_001186248.1:p.Ser64fs
NP_060399.1:p.Ser64fs
NC_000022.10:g.18561334_18561358del

Protein change:

S64fs

Molecular consequence:

NM_001127649.3:c.192_216del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001199319.2:c.192_216del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_017929.6:c.192_216del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Peroxisome biogenesis disorder 7A (Zellweger)
Synonyms:: Peroxisome biogenesis disorder 7A
Identifiers:: MONDO: MONDO:0013938; MedGen: C3888385; Orphanet: 912; OMIM: 614872

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004201508	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Apr 21, 2023)	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

SCV004201508

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Apr 21, 2023)

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, SCV004201508.1

#	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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