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NM_000466.3(PEX1):c.2072-42_2085del

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 20, 2019
Accession:
VCV000844661.2
Variation ID:
844661
Description:
56bp deletion
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NM_000466.3(PEX1):c.2072-42_2085del

Allele ID
852383
Variant type
Deletion
Variant length
56 bp
Cytogenetic location
7q21.2
Genomic location
7: 92503182-92503237 (GRCh38) GRCh38 UCSC
7: 92132496-92132551 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.92132499_92132554del
NC_000007.14:g.92503185_92503240del
NG_008341.1:g.30295_30350del
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1792018845
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Dec 20, 2019 RCV001047573.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
PEX1 - - GRCh38
GRCh37
554 793

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter More information
Likely pathogenic
(Dec 20, 2019)
criteria provided, single submitter
Method: clinical testing
Zellweger spectrum disorders
Affected status: unknown
Allele origin: germline
Invitae
Accession: SCV001211538.2
Submitted: (Jan 07, 2021)
Publications:
PubMed (4)
PubMed: 9398847160863291614100121031596
Comment:
This variant results in the deletion of part of exon 13 (c.2072-42_2085del) of the PEX1 gene. It is expected to disrupt RNA splicing and likely … (more)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder. Ebberink MS Human mutation 2011 PMID: 21031596
Genetic and clinical aspects of Zellweger spectrum patients with PEX1 mutations. Rosewich H Journal of medical genetics 2005 PMID: 16141001
PEX1 mutations in the Zellweger spectrum of the peroxisome biogenesis disorders. Crane DI Human mutation 2005 PMID: 16086329
Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders. Reuber BE Nature genetics 1997 PMID: 9398847

Text-mined citations for rs1792018845...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Jan 08, 2022