NM_000098.3(CPT2):c.877A>G (p.Ser293Gly) AND Carnitine palmitoyltransferase II deficiency

Germline classification:: Likely benign (2 submissions)
Last evaluated:: Jan 18, 2024
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:: RCV000635371.11

Allele description [Variation Report for NM_000098.3(CPT2):c.877A>G (p.Ser293Gly)]

NM_000098.3(CPT2):c.877A>G (p.Ser293Gly)

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.877A>G (p.Ser293Gly)

HGVS:

NC_000001.11:g.53210551A>G
NG_008035.1:g.19123A>G
NM_000098.3:c.877A>GMANE SELECT
NM_001330589.2:c.877A>G
NP_000089.1:p.Ser293Gly
NP_001317518.1:p.Ser293Gly
NC_000001.10:g.53676223A>G
NM_000098.2:c.877A>G

Protein change:

S293G

Links:

dbSNP: rs145237292

NCBI 1000 Genomes Browser:

rs145237292

Molecular consequence:

NM_000098.3:c.877A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001330589.2:c.877A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Carnitine palmitoyltransferase II deficiency (CPT2)
Synonyms:: Carnitine palmitoyl transferase 2 deficiency; Carnitine palmitoyltransferase deficiency type 2
Identifiers:: MONDO: MONDO:0015515; MedGen: C0342790

Recent activity

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Homo sapiens transmembrane protein 250 (TMEM250), transcript variant 2, mRNA
Homo sapiens transmembrane protein 250 (TMEM250), transcript variant 2, mRNA
gi|1890269679|ref|NM_001256526.2|

Nucleotide
BY780211 RIKEN full-length enriched, 17.5 days embryo whole body Mus musculus cD...
BY780211 RIKEN full-length enriched, 17.5 days embryo whole body Mus musculus cDNA clone L930142K24 5', mRNA sequence
gi|39706850|gnl|dbEST|20878880|dbj| 211.1|

Nucleotide
Taxonomy Links for Nucleotide (Select 1124039709) (1)
Taxonomy
PREDICTED: polyadenylate-binding protein 1-like 2 [Rhinolophus sinicus]
PREDICTED: polyadenylate-binding protein 1-like 2 [Rhinolophus sinicus]
gi|1124039830|ref|XP_019578029.1|

Protein
txid109042[Organism] (51959)
Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000756780	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Likely benign (Jan 18, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001454122	Natera, Inc.	no assertion criteria provided	Uncertain significance (Oct 28, 2019)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000756780

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Likely benign
(Jan 18, 2024)

germline

clinical testing

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

SCV001454122

Natera, Inc.

no assertion criteria provided

Uncertain significance
(Oct 28, 2019)

germline

clinical testing

Help

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000756780.7

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

From Natera, Inc., SCV001454122.1

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

Last Updated: Sep 29, 2024

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