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NM_001127649.3(PEX26):c.190_191del (p.Leu65fs) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 16, 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:
RCV003786920.2

Allele description [Variation Report for NM_001127649.3(PEX26):c.190_191del (p.Leu65fs)]

NM_001127649.3(PEX26):c.190_191del (p.Leu65fs)

Gene:
PEX26:peroxisomal biogenesis factor 26 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
22q11.21
Genomic location:
Preferred name:
NM_001127649.3(PEX26):c.190_191del (p.Leu65fs)
HGVS:
  • NC_000022.11:g.18078564AG[1]
  • NG_008339.1:g.5645AG[1]
  • NG_008339.2:g.5576AG[1]
  • NM_001127649.3:c.190_191delMANE SELECT
  • NM_001199319.2:c.190_191del
  • NM_017929.5:c.190_191delAG
  • NM_017929.6:c.190_191del
  • NP_001121121.1:p.Leu65fs
  • NP_001186248.1:p.Leu65fs
  • NP_060399.1:p.Leu65fs
  • NC_000022.10:g.18561330AG[1]
  • NC_000022.10:g.18561330_18561331del
  • NM_001127649.3:c.190_191del
Protein change:
L65fs
Molecular consequence:
  • NM_001127649.3:c.190_191del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001199319.2:c.190_191del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_017929.6:c.190_191del - 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
Name:
Peroxisome biogenesis disorder 7B (PBD7B)
Identifiers:
MONDO: MONDO:0013939; MedGen: C3553951; Orphanet: 44; OMIM: 614873

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004574130Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Oct 16, 2023) 		germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Mutations in novel peroxin gene PEX26 that cause peroxisome-biogenesis disorders of complementation group 8 provide a genotype-phenotype correlation.

Matsumoto N, Tamura S, Furuki S, Miyata N, Moser A, Shimozawa N, Moser HW, Suzuki Y, Kondo N, Fujiki Y.

Am J Hum Genet. 2003 Aug;73(2):233-46. Epub 2003 Jul 8.

PubMed [citation]
PMID:
12851857
PMCID:
PMC1180364

Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder.

Ebberink MS, Mooijer PA, Gootjes J, Koster J, Wanders RJ, Waterham HR.

Hum Mutat. 2011 Jan;32(1):59-69. doi: 10.1002/humu.21388.

PubMed [citation]
PMID:
21031596
See all PubMed Citations (4)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004574130.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

This sequence change creates a premature translational stop signal (p.Leu65Glyfs*49) in the PEX26 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PEX26 are known to be pathogenic (PMID: 12851857, 21031596). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Zellweger spectrum disorder (PMID: 30561787). For these reasons, this variant has been classified as Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 20, 2024