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

Germline classification:
Pathogenic (1 submission)
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:
RCV001004157.9

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, 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, 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
SCV001162923Baylor Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenicgermlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot 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 Baylor Genetics, SCV001162923.1

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

Last Updated: Nov 30, 2024