NM_000098.3(CPT2):c.448A>G (p.Thr150Ala) AND Carnitine palmitoyl transferase II deficiency, severe infantile form

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Aug 3, 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:: RCV000415654.2

Allele description [Variation Report for NM_000098.3(CPT2):c.448A>G (p.Thr150Ala)]

NM_000098.3(CPT2):c.448A>G (p.Thr150Ala)

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.448A>G (p.Thr150Ala)

Other names:

p.Thr150Ala

HGVS:

NC_000001.11:g.53210122A>G
NG_008035.1:g.18694A>G
NM_000098.3:c.448A>GMANE SELECT
NM_001330589.2:c.448A>G
NP_000089.1:p.Thr150Ala
NP_001317518.1:p.Thr150Ala
NC_000001.10:g.53675794A>G
NM_000098.2:c.448A>G

Protein change:

T150A

Links:

dbSNP: rs141505320

NCBI 1000 Genomes Browser:

rs141505320

Molecular consequence:

NM_000098.3:c.448A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001330589.2:c.448A>G - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000493729	Knight Diagnostic Laboratories, Oregon Health and Sciences University - CSER-NextGen	no assertion criteria provided (ACMG Guidelines, 2015)	Uncertain significance (Dec 4, 2015)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001527014	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Aug 3, 2018)	unknown	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

SCV000493729

Knight Diagnostic Laboratories, Oregon Health and Sciences University - CSER-NextGen

no assertion criteria provided

(ACMG Guidelines, 2015)

Uncertain significance
(Dec 4, 2015)

germline

clinical testing

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

SCV001527014

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Aug 3, 2018)

unknown

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	unknown	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	no	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 Knight Diagnostic Laboratories, Oregon Health and Sciences University - CSER-NextGen, SCV000493729.1

#	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	germline	no	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Baylor Genetics, SCV001527014.1

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

Description

This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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

Last Updated: Sep 29, 2024

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