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NM_000286.3(PEX12):c.961_964del (p.Gly321fs)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Aug 11, 2020
Accession:
VCV000558619.2
Variation ID:
558619
Description:
4bp deletion
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NM_000286.3(PEX12):c.961_964del (p.Gly321fs)

Allele ID
548053
Variant type
Deletion
Variant length
4 bp
Cytogenetic location
17q12
Genomic location
17: 35575898-35575901 (GRCh38) GRCh38 UCSC
17: 33902917-33902920 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.33902919_33902922del
NC_000017.11:g.35575900_35575903del
NG_008447.1:g.7737_7740del
NM_000286.3:c.961_964del MANE Select NP_000277.1:p.Gly321fs frameshift
Protein change
G321fs
Other names
-
Canonical SPDI
NC_000017.11:35575897:AGCCAG:AG
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs749650201
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 Jun 4, 2018 RCV000674917.1
Pathogenic 1 criteria provided, single submitter Aug 11, 2020 RCV001382391.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
PEX12 - - GRCh38
GRCh37
237 245

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter More information
Likely pathogenic
(Jun 04, 2018)
criteria provided, single submitter
Method: clinical testing
Peroxisome biogenesis disorder type 3B
Peroxisome biogenesis disorder 3A
Affected status: unknown
Allele origin: unknown
Counsyl
Accession: SCV000800332.1
Submitted: (Jul 10, 2018)
Publications:
PubMed (4)
PubMed: 10837480113707412247159010562279
Pathogenic
(Aug 11, 2020)
criteria provided, single submitter
Method: clinical testing
Peroxisome biogenesis disorder 3A
Affected status: unknown
Allele origin: germline
Invitae
Accession: SCV001581142.1
Submitted: (Jan 07, 2021)
Comment:
This sequence change results in a premature translational stop signal in the PEX12 gene (p.Gly321Metfs*12). While this is not anticipated to result in nonsense mediated … (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
The RING-type ubiquitin ligases Pex2p, Pex10p and Pex12p form a heteromeric complex that displays enhanced activity in an ubiquitin conjugating enzyme-selective manner. El Magraoui F The FEBS journal 2012 PMID: 22471590
Pex12p of Saccharomyces cerevisiae is a component of a multi-protein complex essential for peroxisomal matrix protein import. Albertini M European journal of cell biology 2001 PMID: 11370741
Molecular anatomy of the peroxin Pex12p: ring finger domain is essential for Pex12p function and interacts with the peroxisome-targeting signal type 1-receptor Pex5p and a ring peroxin, Pex10p. Okumoto K The Journal of biological chemistry 2000 PMID: 10837480
PEX12 interacts with PEX5 and PEX10 and acts downstream of receptor docking in peroxisomal matrix protein import. Chang CC The Journal of cell biology 1999 PMID: 10562279

Text-mined citations for rs749650201...

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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