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NM_001127649.3(PEX26):c.574C>T (p.Arg192Ter) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 19, 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:
RCV001390132.6

Allele description [Variation Report for NM_001127649.3(PEX26):c.574C>T (p.Arg192Ter)]

NM_001127649.3(PEX26):c.574C>T (p.Arg192Ter)

Gene:
PEX26:peroxisomal biogenesis factor 26 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
22q11.21
Genomic location:
Preferred name:
NM_001127649.3(PEX26):c.574C>T (p.Arg192Ter)
HGVS:
  • NC_000022.11:g.18083639C>T
  • NG_008339.1:g.10720C>T
  • NM_001127649.3:c.574C>TMANE SELECT
  • NM_001199319.2:c.574C>T
  • NM_017929.6:c.574C>T
  • NP_001121121.1:p.Arg192Ter
  • NP_001186248.1:p.Arg192Ter
  • NP_060399.1:p.Arg192Ter
  • NC_000022.10:g.18566405C>T
  • NM_017929.5:c.574C>T
Protein change:
R192*
Links:
dbSNP: rs61752136
NCBI 1000 Genomes Browser:
rs61752136
Molecular consequence:
  • NM_001127649.3:c.574C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001199319.2:c.574C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_017929.6:c.574C>T - nonsense - [Sequence Ontology: SO:0001587]

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
SCV001591765Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Dec 19, 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 Invitae, SCV001591765.4

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

Description

This sequence change creates a premature translational stop signal (p.Arg192*) 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). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This premature translational stop signal has been observed in individual(s) with peroxisome biogenesis disorders-Zellweger syndrome spectrum (PMID: 15542397). ClinVar contains an entry for this variant (Variation ID: 928563). 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: Jun 17, 2024