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NM_000286.3(PEX12):c.1_2del (p.Met1fs)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jul 10, 2018)
Last evaluated:
Feb 15, 2018
Accession:
VCV000556743.1
Variation ID:
556743
Description:
2bp deletion
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NM_000286.3(PEX12):c.1_2del (p.Met1fs)

Allele ID
548108
Variant type
Deletion
Variant length
2 bp
Cytogenetic location
17q12
Genomic location
17: 35578020-35578021 (GRCh38) GRCh38 UCSC
17: 33905039-33905040 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.33905040_33905041del
NC_000017.11:g.35578021_35578022del
NG_008447.1:g.5617_5618del
NM_000286.3:c.1_2del MANE Select NP_000277.1:p.Met1fs frameshift
Protein change
M1fs
Other names
-
Canonical SPDI
NC_000017.11:35578019:ATA:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1555549923
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 Feb 15, 2018 RCV000672791.1
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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 Supporting information
Likely pathogenic
(Feb 15, 2018)
criteria provided, single submitter
Method: clinical testing
Peroxisome biogenesis disorder type 3B
Peroxisome biogenesis disorder 3A
Allele origin: unknown
Counsyl
Accession: SCV000797933.1
Submitted: (Jul 10, 2018)
Evidence details

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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs1555549923...

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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 Nov 27, 2021