NM_000098.3(CPT2):c.1055T>G (p.Phe352Cys) AND multiple conditions

Germline classification:: Benign (1 submission)
Last evaluated:: Aug 1, 2017
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:: RCV000578014.9

Allele description [Variation Report for NM_000098.3(CPT2):c.1055T>G (p.Phe352Cys)]

NM_000098.3(CPT2):c.1055T>G (p.Phe352Cys)

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.1055T>G (p.Phe352Cys)

HGVS:

NC_000001.11:g.53210729T>G
NG_008035.1:g.19301T>G
NM_000098.3:c.1055T>GMANE SELECT
NM_001330589.2:c.1055T>G
NP_000089.1:p.Phe352Cys
NP_000089.1:p.Phe352Cys
NP_001317518.1:p.Phe352Cys
NC_000001.10:g.53676401T>G
NM_000098.2:c.1055T>G
P23786:p.Phe352Cys

Protein change:

F352C; PHE352CYS

Links:

UniProtKB: P23786#VAR_001394; OMIM: 600650.0018; dbSNP: rs2229291

NCBI 1000 Genomes Browser:

rs2229291

Molecular consequence:

NM_000098.3:c.1055T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001330589.2:c.1055T>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000679761	Phosphorus, Inc.	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign (Aug 1, 2017)	germline	clinical testing	PubMed (9) [See all records that cite these PMIDs] 9600456, 15811315, 16996287, 18306170, 18363739, 20934285, 21697855, 23757202, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000679761

Phosphorus, Inc.

criteria provided, single submitter

(ACMG Guidelines, 2015)

Benign
(Aug 1, 2017)

germline

clinical testing

PubMed (9)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Two CPT2 mutations in three Japanese patients with carnitine palmitoyltransferase II deficiency: functional analysis and association with polymorphic haplotypes and two clinical phenotypes.

Wataya K, Akanuma J, Cavadini P, Aoki Y, Kure S, Invernizzi F, Yoshida I, Kira J, Taroni F, Matsubara Y, Narisawa K.

Hum Mutat. 1998;11(5):377-86.

PubMed [citation]

PMID:: 9600456

Thermolabile phenotype of carnitine palmitoyltransferase II variations as a predisposing factor for influenza-associated encephalopathy.

Chen Y, Mizuguchi H, Yao D, Ide M, Kuroda Y, Shigematsu Y, Yamaguchi S, Yamaguchi M, Kinoshita M, Kido H.

FEBS Lett. 2005 Apr 11;579(10):2040-4.

PubMed [citation]

PMID:: 15811315

See all PubMed Citations (9)

Details of each submission

From Phosphorus, Inc., SCV000679761.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (9)

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

Last Updated: Nov 10, 2024

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