NM_000098.3(CPT2):c.1545_1548del (p.Phe516fs) AND Carnitine palmitoyl transferase II deficiency, neonatal form

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Feb 22, 2016
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:: RCV000409024.2

Allele description [Variation Report for NM_000098.3(CPT2):c.1545_1548del (p.Phe516fs)]

NM_000098.3(CPT2):c.1545_1548del (p.Phe516fs)

Gene:

CPT2:carnitine palmitoyltransferase 2 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

1p32.3

Genomic location:

Preferred name:

NM_000098.3(CPT2):c.1545_1548del (p.Phe516fs)

HGVS:

NC_000001.11:g.53211219_53211222del
NG_008035.1:g.19791_19794del
NM_000098.3:c.1545_1548delMANE SELECT
NM_001330589.2:c.1545_1548del
NP_000089.1:p.Phe516fs
NP_001317518.1:p.Phe516fs
NC_000001.10:g.53676891_53676894del
NM_000098.2:c.1545_1548delCTTT

Protein change:

F516fs

Links:

dbSNP: rs1057517477

NCBI 1000 Genomes Browser:

rs1057517477

Molecular consequence:

NM_000098.3:c.1545_1548del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001330589.2:c.1545_1548del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV000487526	Counsyl	criteria provided, single submitter (Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015))	Likely pathogenic (Feb 22, 2016)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID] 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

SCV000487526

Counsyl

criteria provided, single submitter

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

Likely pathogenic
(Feb 22, 2016)

unknown

clinical testing

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

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

A novel nonsense mutation (515del4) in muscle carnitine palmitoyltransferase II deficiency.

Deschauer M, Wieser T, Schröder R, Zierz S.

Mol Genet Metab. 2002 Feb;75(2):181-5.

PubMed [citation]

PMID:: 11855939

Details of each submission

From Counsyl, SCV000487526.2

#	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	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 30, 2023

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