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NM_002618.4(PEX13):c.145dup (p.Thr49fs) AND Peroxisome biogenesis disorder 11A (Zellweger)

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 5, 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:
RCV003651258.2

Allele description [Variation Report for NM_002618.4(PEX13):c.145dup (p.Thr49fs)]

NM_002618.4(PEX13):c.145dup (p.Thr49fs)

Gene:
PEX13:peroxisomal biogenesis factor 13 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
2p15
Genomic location:
Preferred name:
NM_002618.4(PEX13):c.145dup (p.Thr49fs)
HGVS:
  • NC_000002.12:g.61031471dup
  • NG_008665.1:g.18795dup
  • NM_002618.4:c.145dupMANE SELECT
  • NP_002609.1:p.Thr49fs
  • NC_000002.11:g.61258605_61258606insA
  • NC_000002.11:g.61258606dup
Protein change:
T49fs
Molecular consequence:
  • NM_002618.4:c.145dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Peroxisome biogenesis disorder 11A (Zellweger)
Synonyms:
Peroxisome biogenesis disorder 11A
Identifiers:
MONDO: MONDO:0013949; MedGen: C3554000; Orphanet: 912; OMIM: 614883

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004430708Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Feb 5, 2023) 		germlineclinical testing

PubMed (3)
[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

Nonsense and temperature-sensitive mutations in PEX13 are the cause of complementation group H of peroxisome biogenesis disorders.

Shimozawa N, Suzuki Y, Zhang Z, Imamura A, Toyama R, Mukai S, Fujiki Y, Tsukamoto T, Osumi T, Orii T, Wanders RJ, Kondo N.

Hum Mol Genet. 1999 Jun;8(6):1077-83.

PubMed [citation]
PMID:
10332040

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 (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004430708.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Thr49Asnfs*18) in the PEX13 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PEX13 are known to be pathogenic (PMID: 10332040, 21031596). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PEX13-related conditions.

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

Last Updated: Sep 29, 2024