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NM_000286.3(PEX12):c.429_431inv (p.Tyr143_Ser144delinsTer)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jul 10, 2018)
Last evaluated:
Jul 7, 2017
Accession:
VCV000552799.1
Variation ID:
552799
Description:
3bp inversion
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NM_000286.3(PEX12):c.429_431inv (p.Tyr143_Ser144delinsTer)

Allele ID
548090
Variant type
Inversion
Variant length
3 bp
Cytogenetic location
17q12
Genomic location
17: 35577287-35577289 (GRCh38) GRCh38 UCSC
17: 33904306-33904308 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.33904306_33904308inv
NC_000017.11:g.35577287_35577289inv
NM_000286.3:c.429_431inv MANE Select NP_000277.1:p.Tyr143_Ser144delinsTer nonsense
NG_008447.1:g.6349_6351inv
Protein change
-
Other names
-
Canonical SPDI
NC_000017.11:35577286:GAA:TTC
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
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 Jul 7, 2017 RCV000668131.1
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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
(Jul 07, 2017)
criteria provided, single submitter
Method: clinical testing
Peroxisome biogenesis disorder type 3B
Peroxisome biogenesis disorder 3A
Allele origin: unknown
Counsyl
Accession: SCV000792682.1
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.

Record last updated Aug 05, 2021