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NM_000098.3(CPT2):c.1666_1667del (p.Leu556fs) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 14, 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:
RCV002507406.2

Allele description [Variation Report for NM_000098.3(CPT2):c.1666_1667del (p.Leu556fs)]

NM_000098.3(CPT2):c.1666_1667del (p.Leu556fs)

Gene:
CPT2:carnitine palmitoyltransferase 2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
1p32.3
Genomic location:
Preferred name:
NM_000098.3(CPT2):c.1666_1667del (p.Leu556fs)
HGVS:
  • NC_000001.11:g.53213284_53213285del
  • NG_008035.1:g.21856_21857del
  • NM_000098.3:c.1666_1667delMANE SELECT
  • NM_001330589.2:c.1597_1598del
  • NP_000089.1:p.Leu556fs
  • NP_001317518.1:p.Leu533fs
  • NC_000001.10:g.53678956_53678957del
  • NM_000098.2:c.1666_1667delTT
Protein change:
L533fs
Links:
dbSNP: rs1557719455
NCBI 1000 Genomes Browser:
rs1557719455
Molecular consequence:
  • NM_000098.3:c.1666_1667del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001330589.2:c.1597_1598del - 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
Name:
Encephalopathy, acute, infection-induced, susceptibility to, 4
Identifiers:
MONDO: MONDO:0013633; MedGen: C3280160; Orphanet: 263524; OMIM: 614212

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002809581Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Apr 14, 2022) 		unknownclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Fulgent Genetics, Fulgent Genetics, SCV002809581.1

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

Last Updated: Oct 20, 2024