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NM_000098.3(CPT2):c.520G>T (p.Glu174Ter) AND Carnitine palmitoyltransferase II deficiency

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 27, 2021
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV002530652.3

Allele description [Variation Report for NM_000098.3(CPT2):c.520G>T (p.Glu174Ter)]

NM_000098.3(CPT2):c.520G>T (p.Glu174Ter)

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.520G>T (p.Glu174Ter)
HGVS:
  • NC_000001.11:g.53210194G>T
  • NG_008035.1:g.18766G>T
  • NM_000098.3:c.520G>TMANE SELECT
  • NM_001330589.2:c.520G>T
  • NP_000089.1:p.Glu174Ter
  • NP_001317518.1:p.Glu174Ter
  • NC_000001.10:g.53675866G>T
  • NM_000098.2:c.520G>T
Protein change:
E174*
Links:
dbSNP: rs28936674
NCBI 1000 Genomes Browser:
rs28936674
Molecular consequence:
  • NM_000098.3:c.520G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001330589.2:c.520G>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Carnitine palmitoyltransferase II deficiency (CPT2)
Synonyms:
Carnitine palmitoyl transferase 2 deficiency; Carnitine palmitoyltransferase deficiency type 2
Identifiers:
MONDO: MONDO:0015515; MedGen: C0342790

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003273334Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Dec 27, 2021) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Crystal structure of rat carnitine palmitoyltransferase II (CPT-II).

Hsiao YS, Jogl G, Esser V, Tong L.

Biochem Biophys Res Commun. 2006 Aug 4;346(3):974-80. Epub 2006 Jun 9.

PubMed [citation]
PMID:
16781677
PMCID:
PMC2937350

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
See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV003273334.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 550520). This variant has not been reported in the literature in individuals affected with CPT2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu174*) in the CPT2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CPT2 are known to be pathogenic (PMID: 16781677, 16996287).

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

Last Updated: Sep 29, 2024