U.S. flag

An official website of the United States government

NM_000098.3(CPT2):c.150del (p.Arg51fs) AND multiple conditions

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jan 31, 2022
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:
RCV002306739.2

Allele description [Variation Report for NM_000098.3(CPT2):c.150del (p.Arg51fs)]

NM_000098.3(CPT2):c.150del (p.Arg51fs)

Genes:
LOC129930561:ATAC-STARR-seq lymphoblastoid silent region 902 [Gene]
CPT2:carnitine palmitoyltransferase 2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
1p32.3
Genomic location:
Preferred name:
NM_000098.3(CPT2):c.150del (p.Arg51fs)
HGVS:
  • NC_000001.11:g.53197093del
  • NG_008035.1:g.5665del
  • NM_000098.3:c.150delMANE SELECT
  • NM_001330589.2:c.150del
  • NP_000089.1:p.Arg51fs
  • NP_001317518.1:p.Arg51fs
  • NC_000001.10:g.53662765del
Protein change:
R51fs
Molecular consequence:
  • NM_000098.3:c.150del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001330589.2:c.150del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Carnitine palmitoyl transferase II deficiency, severe infantile form
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
Name:
Carnitine palmitoyl transferase II deficiency, myopathic form
Synonyms:
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, ADULT-ONSET; CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, MYOPATHIC; CPT II DEFICIENCY, MYOPATHIC; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009704; MedGen: C1833508; Orphanet: 157; Orphanet: 228302; OMIM: 255110
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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002602769Myriad Genetics, Inc.
criteria provided, single submitter

(Myriad Women's Health Autosomal Recessive and X-Linked Classification Criteria (2021))		Likely pathogenic
(Jan 31, 2022) 		unknownclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Myriad Genetics, Inc., SCV002602769.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

NM_000098.2(CPT2):c.150delC(R51Gfs*22) is expected to be pathogenic in the context of carnitine palmitoyltransferase II deficiency. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in CPT2, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.

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

Last Updated: Oct 14, 2023