NM_000098.3(CPT2):c.725del (p.His242fs) AND Carnitine palmitoyltransferase II deficiency, infantile

Clinical significance:Likely pathogenic (Last evaluated: Jul 18, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000668263.1

Allele description [Variation Report for NM_000098.3(CPT2):c.725del (p.His242fs)]

NM_000098.3(CPT2):c.725del (p.His242fs)

Gene:
CPT2:carnitine palmitoyltransferase 2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
1p32.3
Genomic location:
Preferred name:
NM_000098.3(CPT2):c.725del (p.His242fs)
HGVS:
  • NC_000001.11:g.53210399del
  • NG_008035.1:g.18971del
  • NM_000098.3:c.725delMANE SELECT
  • NM_001330589.2:c.725del
  • NP_000089.1:p.His242fs
  • NP_001317518.1:p.His242fs
  • NC_000001.10:g.53676071del
  • NM_000098.2:c.725delA
Protein change:
H242fs
Links:
dbSNP: rs1553169666
NCBI 1000 Genomes Browser:
rs1553169666
Molecular consequence:
  • NM_000098.3:c.725del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001330589.2:c.725del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV000792836Counsylcriteria provided, single submitter
Likely pathogenic
(Jul 18, 2017)
unknownclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Counsyl, SCV000792836.1

#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: Apr 17, 2020

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