NM_000098.3(CPT2):c.1345C>T (p.Gln449Ter) AND Carnitine palmitoyltransferase II deficiency, lethal neonatal

Clinical significance:Likely pathogenic (Last evaluated: Apr 25, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000411103.1

Allele description [Variation Report for NM_000098.3(CPT2):c.1345C>T (p.Gln449Ter)]

NM_000098.3(CPT2):c.1345C>T (p.Gln449Ter)

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.1345C>T (p.Gln449Ter)
HGVS:
  • NC_000001.11:g.53211019C>T
  • NG_008035.1:g.19591C>T
  • NM_000098.3:c.1345C>TMANE SELECT
  • NM_001330589.2:c.1345C>T
  • NP_000089.1:p.Gln449Ter
  • NP_001317518.1:p.Gln449Ter
  • NC_000001.10:g.53676691C>T
  • NM_000098.2:c.1345C>T
Protein change:
Q449*
Links:
dbSNP: rs1057517492
NCBI 1000 Genomes Browser:
rs1057517492
Molecular consequence:
  • NM_000098.3:c.1345C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001330589.2:c.1345C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Carnitine palmitoyltransferase II deficiency, lethal neonatal
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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000487579Counsylcriteria provided, single submitter
Likely pathogenic
(Apr 25, 2016)
unknownclinical testing

mdi-5618_320494_Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015).pdf

Citation Link

Summary from all submissions

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

Details of each submission

From Counsyl, SCV000487579.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 10, 2020

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