NM_000098.3(CPT2):c.1148T>A (p.Phe383Tyr) AND Carnitine palmitoyl transferase II deficiency, neonatal form

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Nov 30, 2015
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:: RCV000411002.2

Allele description [Variation Report for NM_000098.3(CPT2):c.1148T>A (p.Phe383Tyr)]

NM_000098.3(CPT2):c.1148T>A (p.Phe383Tyr)

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.1148T>A (p.Phe383Tyr)

HGVS:

NC_000001.11:g.53210822T>A
NG_008035.1:g.19394T>A
NM_000098.3:c.1148T>AMANE SELECT
NM_001330589.2:c.1148T>A
NP_000089.1:p.Phe383Tyr
NP_001317518.1:p.Phe383Tyr
NC_000001.10:g.53676494T>A
NM_000098.2:c.1148T>A
NP_000089.1:p.Phe282Tyr
P23786:p.Phe383Tyr
c.1148T>A (p.Phe383Tyr)

Protein change:

F383Y; PHE383TYR

Links:

UniProtKB: P23786#VAR_001396; OMIM: 600650.0007; dbSNP: rs74315295

NCBI 1000 Genomes Browser:

rs74315295

Molecular consequence:

NM_000098.3:c.1148T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001330589.2:c.1148T>A - 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

Recent activity

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Tmed8 transmembrane p24 trafficking protein 8 [Mus musculus]
Tmed8 transmembrane p24 trafficking protein 8 [Mus musculus]
Gene ID:382620

Gene
382620[uid] AND (alive[prop]) (1)
Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000487433	Counsyl	criteria provided, single submitter (Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015))	Likely pathogenic (Nov 30, 2015)	unknown	clinical testing	PubMed (7) [See all records that cite these PMIDs] 21227726, 25919294, 22854105, 23700290, 18363739, 9600456, 12673791 mdi-5618_320494_Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015).pdf Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000487433

Counsyl

criteria provided, single submitter

(Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015))

Likely pathogenic
(Nov 30, 2015)

unknown

clinical testing

PubMed (7)
[See all records that cite these PMIDs]

mdi-5618_320494_Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015).pdf

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Retrospective review of Japanese sudden unexpected death in infancy: the importance of metabolic autopsy and expanded newborn screening.

Yamamoto T, Tanaka H, Kobayashi H, Okamura K, Tanaka T, Emoto Y, Sugimoto K, Nakatome M, Sakai N, Kuroki H, Yamaguchi S, Matoba R.

Mol Genet Metab. 2011 Apr;102(4):399-406. doi: 10.1016/j.ymgme.2010.12.004. Epub 2010 Dec 14.

PubMed [citation]

PMID:: 21227726

Metabolic disease in 10 patients with sudden unexpected death in infancy or acute life-threatening events.

Takahashi T, Yamada K, Kobayashi H, Hasegawa Y, Taketani T, Fukuda S, Yamaguchi S.

Pediatr Int. 2015 Jun;57(3):348-53. doi: 10.1111/ped.12660. Review.

PubMed [citation]

PMID:: 25919294

See all PubMed Citations (7)

Details of each submission

From Counsyl, SCV000487433.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (7)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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