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NC_000001.10:g.(?_2337205)_(2341910_?)del AND Peroxisome biogenesis disorder, complementation group 7

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 8, 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:
RCV004584059.2

Allele description [Variation Report for NC_000001.10:g.(?_2337205)_(2341910_?)del]

NC_000001.10:g.(?_2337205)_(2341910_?)del

Gene:
PEX10:peroxisomal biogenesis factor 10 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
1p36.32
Genomic location:
Chr1: 2337205 - 2341910 (on Assembly GRCh37)
Preferred name:
NC_000001.10:g.(?_2337205)_(2341910_?)del
HGVS:
NC_000001.10:g.(?_2337205)_(2341910_?)del

Condition(s)

Name:
Peroxisome biogenesis disorder, complementation group 7 (CG7)
Synonyms:
Peroxisome biogenesis disorder, complementation group B
Identifiers:
MedGen: C1864399

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV005066452Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))
Pathogenic
(Feb 8, 2023)
unknownclinical testing

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

Summary from all submissions

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

Citations

PubMed

A PEX10 defect in a patient with no detectable defect in peroxisome assembly or metabolism in cultured fibroblasts.

Steinberg SJ, Snowden A, Braverman NE, Chen L, Watkins PA, Clayton PT, Setchell KD, Heubi JE, Raymond GV, Moser AB, Moser HW.

J Inherit Metab Dis. 2009 Feb;32(1):109-19. doi: 10.1007/s10545-008-0969-8. Epub 2008 Dec 25.

PubMed [citation]
PMID:
19127411

Induced pluripotent stem cell models of Zellweger spectrum disorder show impaired peroxisome assembly and cell type-specific lipid abnormalities.

Wang XM, Yik WY, Zhang P, Lu W, Huang N, Kim BR, Shibata D, Zitting M, Chow RH, Moser AB, Steinberg SJ, Hacia JG.

Stem Cell Res Ther. 2015 Aug 29;6:158. doi: 10.1186/s13287-015-0149-3.

PubMed [citation]
PMID:
26319495
PMCID:
PMC4553005
See all PubMed Citations (4)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV005066452.1

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

Description

This variant disrupts a region of the PEX10 protein in which other variant(s) (p.Leu297Pro) have been determined to be pathogenic (PMID: 19127411, 26319495, 30640048). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with PEX10-related conditions. This variant is a gross deletion of the genomic region encompassing exon(s) 2-6 of the PEX10 gene, which includes the termination codon. This deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. While this deletion is not anticipated to lead to nonsense mediated decay, it is expected to alter mRNA translation or result in a truncated protein product.

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

Last Updated: Sep 29, 2024