NM_000098.3(CPT2):c.1046_1047del (p.Asn349fs) AND Carnitine palmitoyl transferase II deficiency, severe infantile form

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: May 9, 2018
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:: RCV000674530.1

Allele description [Variation Report for NM_000098.3(CPT2):c.1046_1047del (p.Asn349fs)]

NM_000098.3(CPT2):c.1046_1047del (p.Asn349fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

1p32.3

Genomic location:

Preferred name:

NM_000098.3(CPT2):c.1046_1047del (p.Asn349fs)

HGVS:

NC_000001.11:g.53210720_53210721del
NG_008035.1:g.19292_19293del
NM_000098.3:c.1046_1047delMANE SELECT
NM_001330589.2:c.1046_1047del
NP_000089.1:p.Asn349fs
NP_001317518.1:p.Asn349fs
NC_000001.10:g.53676392_53676393del
NM_000098.2:c.1046_1047delAC

Protein change:

N349fs

Links:

dbSNP: rs1553169726

NCBI 1000 Genomes Browser:

rs1553169726

Molecular consequence:

NM_000098.3:c.1046_1047del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001330589.2:c.1046_1047del - frameshift variant - [Sequence Ontology: SO:0001589]

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000799882	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Likely pathogenic (May 9, 2018)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000799882

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))

Likely pathogenic
(May 9, 2018)

unknown

clinical testing

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

Details of each submission

From Counsyl, SCV000799882.1

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

#	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: Apr 23, 2022

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