NM_000098.3(CPT2):c.338C>T (p.Ser113Leu) AND Encephalopathy, acute, infection-induced, susceptibility to, 4

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Mar 30, 2024
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV003137507.10

Allele description [Variation Report for NM_000098.3(CPT2):c.338C>T (p.Ser113Leu)]

NM_000098.3(CPT2):c.338C>T (p.Ser113Leu)

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.338C>T (p.Ser113Leu)

Other names:

p.S113L:TCG>TTG

HGVS:

NC_000001.11:g.53202427C>T
NG_008035.1:g.10999C>T
NM_000098.3:c.338C>TMANE SELECT
NM_001330589.2:c.338C>T
NP_000089.1:p.Ser113Leu
NP_000089.1:p.Ser113Leu
NP_001317518.1:p.Ser113Leu
NC_000001.10:g.53668099C>T
NM_000098.2:c.338C>T
P23786:p.Ser113Leu
c.338C>T (p.Ser113Leu)

Protein change:

S113L; SER113LEU

Links:

UniProtKB: P23786#VAR_001392; OMIM: 600650.0002; dbSNP: rs74315294

NCBI 1000 Genomes Browser:

rs74315294

Molecular consequence:

NM_000098.3:c.338C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001330589.2:c.338C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003807055	Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Dec 30, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004211025	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Mar 30, 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

SCV003807055

Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Dec 30, 2022)

germline

clinical testing

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

SCV004211025

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Mar 30, 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
not provided	germline	yes	1	not provided	not provided	1	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 Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein, SCV003807055.1

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

Description

ACMG classification criteria: PS3 supporting, PM3 very strong, PP3 supporting

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

From Baylor Genetics, SCV004211025.2

#	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 24, 2024

ClinVar

Relating variation to medicine