NM_000098.3(CPT2):c.1348A>T (p.Arg450Ter) AND Carnitine palmitoyltransferase II deficiency, infantile

Clinical significance:Likely pathogenic (Last evaluated: Sep 29, 2014)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000169371.1

Allele description [Variation Report for NM_000098.3(CPT2):c.1348A>T (p.Arg450Ter)]

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

Gene:
CPT2:carnitine palmitoyltransferase 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p32.3
Genomic location:
Preferred name:
NM_000098.3(CPT2):c.1348A>T (p.Arg450Ter)
HGVS:
  • NC_000001.11:g.53211022A>T
  • NG_008035.1:g.19594A>T
  • NM_000098.3:c.1348A>TMANE SELECT
  • NM_001330589.2:c.1348A>T
  • NP_000089.1:p.Arg450Ter
  • NP_001317518.1:p.Arg450Ter
  • NC_000001.10:g.53676694A>T
  • NM_000098.2:c.1348A>T
Protein change:
R450*
Links:
dbSNP: rs755395180
NCBI 1000 Genomes Browser:
rs755395180
Molecular consequence:
  • NM_000098.3:c.1348A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001330589.2:c.1348A>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Carnitine palmitoyltransferase II deficiency, infantile
Synonyms:
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY WITH HYPOKETOTIC HYPOGLYCEMIA; CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, HEPATOCARDIOMUSCULAR; CPT II DEFICIENCY, HEPATIC; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010914; MedGen: C1833511; Orphanet: 228305; OMIM: 600649

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000220749Counsylcriteria provided, single submitter
Likely pathogenic
(Sep 29, 2014)
unknownliterature only

PubMed (2)
[See all records that cite these PMIDs]

Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015)

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Genotype-phenotype correlations in a large series of patients with muscle type CPT II deficiency.

Anichini A, Fanin M, Vianey-Saban C, Cassandrini D, Fiorillo C, Bruno C, Angelini C.

Neurol Res. 2011 Jan;33(1):24-32. doi: 10.1179/016164110X12767786356390. Epub 2010 Aug 31.

PubMed [citation]
PMID:
20810031

Allelic and phenotypic heterogeneity in 49 Italian patients with the muscle form of CPT-II deficiency.

Fanin M, Anichini A, Cassandrini D, Fiorillo C, Scapolan S, Minetti C, Cassanello M, Donati MA, Siciliano G, D'Amico A, Lilliu F, Bruno C, Angelini C.

Clin Genet. 2012 Sep;82(3):232-9. doi: 10.1111/j.1399-0004.2011.01786.x. Epub 2011 Oct 12.

PubMed [citation]
PMID:
21913903

Details of each submission

From Counsyl, SCV000220749.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 17, 2020

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