NM_000098.3(CPT2):c.1239_1240del (p.Lys414fs) AND Encephalopathy, acute, infection-induced, susceptibility to, 4

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Oct 29, 2023
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:: RCV003474675.1

Allele description [Variation Report for NM_000098.3(CPT2):c.1239_1240del (p.Lys414fs)]

NM_000098.3(CPT2):c.1239_1240del (p.Lys414fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

1p32.3

Genomic location:

Preferred name:

NM_000098.3(CPT2):c.1239_1240del (p.Lys414fs)

HGVS:

NC_000001.11:g.53210913_53210914del
NG_008035.1:g.19485_19486del
NM_000098.3:c.1239_1240delMANE SELECT
NM_001330589.2:c.1239_1240del
NP_000089.1:p.Lys414fs
NP_001317518.1:p.Lys414fs
NC_000001.10:g.53676584_53676585del
NC_000001.10:g.53676585_53676586del
NM_000098.2:c.1238_1239del
NM_000098.2:c.1238_1239delAG
NM_000098.2:c.1239_1240delGA
NM_000098.3:c.1239_1240delGAMANE SELECT
c.1238_1239delAG (p.Lys414Thrfs*7)
p.K414TfsX7

Protein change:

K414fs

Links:

OMIM: 600650.0009; dbSNP: rs397509431

NCBI 1000 Genomes Browser:

rs397509431

Molecular consequence:

NM_000098.3:c.1239_1240del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001330589.2:c.1239_1240del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV004211028	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Oct 29, 2023)	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

SCV004211028

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Oct 29, 2023)

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

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 Baylor Genetics, SCV004211028.1

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

Last Updated: Jun 9, 2024

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