NM_000098.3(CPT2):c.1369A>T (p.Lys457Ter) AND Carnitine palmitoyltransferase II deficiency, infantile

Clinical significance:Likely pathogenic (Last evaluated: Apr 8, 2014)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000169067.1

Allele description [Variation Report for NM_000098.3(CPT2):c.1369A>T (p.Lys457Ter)]

NM_000098.3(CPT2):c.1369A>T (p.Lys457Ter)

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.1369A>T (p.Lys457Ter)
HGVS:
  • NC_000001.11:g.53211043A>T
  • NG_008035.1:g.19615A>T
  • NM_000098.3:c.1369A>TMANE SELECT
  • NM_001330589.2:c.1369A>T
  • NP_000089.1:p.Lys457Ter
  • NP_001317518.1:p.Lys457Ter
  • NC_000001.10:g.53676715A>T
  • NM_000098.2:c.1369A>T
Protein change:
K457*
Links:
dbSNP: rs756931329
NCBI 1000 Genomes Browser:
rs756931329
Molecular consequence:
  • NM_000098.3:c.1369A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001330589.2:c.1369A>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

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000220232Counsylcriteria provided, single submitter
Likely pathogenic
(Apr 8, 2014)
unknownliterature only

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

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

Identification of 16 new disease-causing mutations in the CPT2 gene resulting in carnitine palmitoyltransferase II deficiency.

Isackson PJ, Bennett MJ, Vladutiu GD.

Mol Genet Metab. 2006 Dec;89(4):323-31. Epub 2006 Sep 22.

PubMed [citation]
PMID:
16996287

Details of each submission

From Counsyl, SCV000220232.1

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

Last Updated: Sep 29, 2021

Support Center