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NM_000098.3(CPT2):c.1348A>T (p.Arg450Ter)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Mar 11, 2015)
Last evaluated:
Sep 29, 2014
Accession:
VCV000188991.1
Variation ID:
188991
Description:
single nucleotide variant
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NM_000098.3(CPT2):c.1348A>T (p.Arg450Ter)

Allele ID
186626
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p32.3
Genomic location
1: 53211022 (GRCh38) GRCh38 UCSC
1: 53676694 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.53676694A>T
NC_000001.11:g.53211022A>T
NM_000098.3:c.1348A>T MANE Select NP_000089.1:p.Arg450Ter nonsense
... more HGVS
Protein change
R450*
Other names
-
Canonical SPDI
NC_000001.11:53211021:A:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00000
Exome Aggregation Consortium (ExAC) 0.00001
Links
ClinGen: CA274222
dbSNP: rs755395180
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 Sep 29, 2014 RCV000169371.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CPT2 - - GRCh38
GRCh37
484 502

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Sep 29, 2014)
criteria provided, single submitter
Method: literature only
Carnitine palmitoyltransferase II deficiency, infantile
(Autosomal recessive inheritance)
Allele origin: unknown
Counsyl
Accession: SCV000220749.1
Submitted: (Mar 11, 2015)
Evidence details
Publications
PubMed (2)

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
Allelic and phenotypic heterogeneity in 49 Italian patients with the muscle form of CPT-II deficiency. Fanin M Clinical genetics 2012 PMID: 21913903
Genotype-phenotype correlations in a large series of patients with muscle type CPT II deficiency. Anichini A Neurological research 2011 PMID: 20810031

Text-mined citations for rs755395180...

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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 Apr 17, 2020