NM_000098.3(CPT2):c.1033G>A (p.Gly345Arg) AND Carnitine palmitoyl transferase II deficiency, neonatal form

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: May 10, 2019
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:: RCV001030040.4

Allele description [Variation Report for NM_000098.3(CPT2):c.1033G>A (p.Gly345Arg)]

NM_000098.3(CPT2):c.1033G>A (p.Gly345Arg)

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.1033G>A (p.Gly345Arg)

HGVS:

NC_000001.11:g.53210707G>A
NG_008035.1:g.19279G>A
NM_000098.3:c.1033G>AMANE SELECT
NM_001330589.2:c.1033G>A
NP_000089.1:p.Gly345Arg
NP_001317518.1:p.Gly345Arg
NC_000001.10:g.53676379G>A
NM_000098.2:c.1033G>A

Protein change:

G345R

Links:

dbSNP: rs771214714

NCBI 1000 Genomes Browser:

rs771214714

Molecular consequence:

NM_000098.3:c.1033G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001330589.2:c.1033G>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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001190558	Center for Molecular Medicine, Children’s Hospital of Fudan University	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (May 10, 2019)	maternal	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001190558

Center for Molecular Medicine, Children’s Hospital of Fudan University

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(May 10, 2019)

maternal

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	maternal	yes	not provided	not provided	not provided	not provided	not provided	clinical 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 Center for Molecular Medicine, Children’s Hospital of Fudan University, SCV001190558.1

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

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

Last Updated: Jun 23, 2024

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