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NM_000098.3(CPT2):c.534_558delinsT (p.Leu178_Ile186delinsPhe) AND Carnitine palmitoyl transferase II deficiency, neonatal form

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 1, 2003
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV002274921.8

Allele description [Variation Report for NM_000098.3(CPT2):c.534_558delinsT (p.Leu178_Ile186delinsPhe)]

NM_000098.3(CPT2):c.534_558delinsT (p.Leu178_Ile186delinsPhe)

Gene:
CPT2:carnitine palmitoyltransferase 2 [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
1p32.3
Genomic location:
Preferred name:
NM_000098.3(CPT2):c.534_558delinsT (p.Leu178_Ile186delinsPhe)
HGVS:
  • NC_000001.11:g.53210208_53210232delinsT
  • NG_008035.1:g.18780_18804delinsT
  • NM_000098.3:c.534_558delinsTMANE SELECT
  • NM_001330589.2:c.534_558delinsT
  • NP_000089.1:p.Leu178_Ile186delinsPhe
  • NP_000089.1:p.Leu178_Ile186delinsPhe
  • NP_001317518.1:p.Leu178_Ile186delinsPhe
  • NC_000001.10:g.53675880_53675904delinsT
  • NM_000098.2:c.534_558del25insT
  • c.534_558del25insT (p.Leu178_Ile186delinsPhe)
Links:
OMIM: 600650.0010; dbSNP: rs515726173
NCBI 1000 Genomes Browser:
rs515726173
Molecular consequence:
  • NM_000098.3:c.534_558delinsT - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001330589.2:c.534_558delinsT - inframe_indel - [Sequence Ontology: SO:0001820]

Condition(s)

Name:
Carnitine palmitoyl transferase II deficiency, neonatal form
Synonyms:
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, ANTENATAL; CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, NEONATAL; CPT II DEFICIENCY, LETHAL NEONATAL; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0012136; MedGen: C1833518; Orphanet: 228308; OMIM: 608836

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000029741OMIM
no assertion criteria provided
Pathogenic
(Jan 1, 2003) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

A novel splice site mutation in neonatal carnitine palmitoyl transferase II deficiency.

Smeets RJ, Smeitink JA, Semmekrot BA, Scholte HR, Wanders RJ, van den Heuvel LP.

J Hum Genet. 2003;48(1):8-13.

PubMed [citation]
PMID:
12560872

Details of each submission

From OMIM, SCV000029741.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a Moroccan family in which 4 sibs died from neonatal CPT II deficiency (608836), Smeets et al. (2003) identified a novel splice site mutation in the CPT2 gene: a G-to-A transition in the splice acceptor site of intron 2 (IVS2-1G-A; 600650.0011). Studies at the mRNA level indicated that the affected children were homozygous for an insertion of a threonine at codon 534 (534insT) followed by a 25-bp deletion (bases 534-558). Studies of genomic DNA, however, revealed all patients were compound heterozygous for this 534insT/del25 mutation, and, on the other allele, for the novel splice site mutation. The findings underscored the incompleteness of mutation detection at the mRNA level in cases where a mutation leads to aberrant splicing or nonsense-mediated messenger decay.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 3, 2024