NM_000098.3(CPT2):c.149C>A (p.Pro50His) AND Encephalopathy, acute, infection-induced, susceptibility to, 4

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 24, 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:: RCV003473063.2

Allele description [Variation Report for NM_000098.3(CPT2):c.149C>A (p.Pro50His)]

NM_000098.3(CPT2):c.149C>A (p.Pro50His)

Genes:

LOC129930561:ATAC-STARR-seq lymphoblastoid silent region 902 [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.149C>A (p.Pro50His)

HGVS:

NC_000001.11:g.53197092C>A
NG_008035.1:g.5664C>A
NM_000098.3:c.149C>AMANE SELECT
NM_001330589.2:c.149C>A
NP_000089.1:p.Pro50His
NP_000089.1:p.Pro50His
NP_001317518.1:p.Pro50His
NC_000001.10:g.53662764C>A
NM_000098.2:c.149C>A
P23786:p.Pro50His
c.149C>A (p.Pro50His)

Protein change:

P50H; PRO50HIS

Links:

UniProtKB: P23786#VAR_001391; OMIM: 600650.0003; dbSNP: rs28936375

NCBI 1000 Genomes Browser:

rs28936375

Molecular consequence:

NM_000098.3:c.149C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001330589.2:c.149C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Encephalopathy, acute, infection-induced, susceptibility to, 4
Identifiers:: MONDO: MONDO:0013633; MedGen: C3280160; Orphanet: 263524; OMIM: 614212

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004211037	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Mar 24, 2024)	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

SCV004211037

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Mar 24, 2024)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Nothing to display

Details of each submission

From Baylor Genetics, SCV004211037.2

#	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: Nov 18, 2024

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