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NM_000098.3(CPT2):c.338C>T (p.Ser113Leu) AND Carnitine palmitoyl transferase II deficiency, neonatal form

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 5, 2015
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000194764.9

Allele description [Variation Report for NM_000098.3(CPT2):c.338C>T (p.Ser113Leu)]

NM_000098.3(CPT2):c.338C>T (p.Ser113Leu)

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.338C>T (p.Ser113Leu)
Other names:
p.S113L:TCG>TTG
HGVS:
  • NC_000001.11:g.53202427C>T
  • NG_008035.1:g.10999C>T
  • NM_000098.3:c.338C>TMANE SELECT
  • NM_001330589.2:c.338C>T
  • NP_000089.1:p.Ser113Leu
  • NP_000089.1:p.Ser113Leu
  • NP_001317518.1:p.Ser113Leu
  • NC_000001.10:g.53668099C>T
  • NM_000098.2:c.338C>T
  • P23786:p.Ser113Leu
  • c.338C>T (p.Ser113Leu)
Protein change:
S113L; SER113LEU
Links:
UniProtKB: P23786#VAR_001392; OMIM: 600650.0002; dbSNP: rs74315294
NCBI 1000 Genomes Browser:
rs74315294
Molecular consequence:
  • NM_000098.3:c.338C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330589.2:c.338C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000223924Knight Diagnostic Laboratories, Oregon Health and Sciences University
no assertion criteria provided

(ACMG Guidelines, 2015)		Pathogenic
(Jan 5, 2015) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenonot 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 Knight Diagnostic Laboratories, Oregon Health and Sciences University, SCV000223924.1

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

Last Updated: Nov 24, 2024