NM_001135651.3(EIF2AK2):c.1344dup (p.Lys449Ter) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 12, 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:: RCV003328800.1

Allele description [Variation Report for NM_001135651.3(EIF2AK2):c.1344dup (p.Lys449Ter)]

NM_001135651.3(EIF2AK2):c.1344dup (p.Lys449Ter)

Gene:

EIF2AK2:eukaryotic translation initiation factor 2 alpha kinase 2 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

2p22.2

Genomic location:

Preferred name:

NM_001135651.3(EIF2AK2):c.1344dup (p.Lys449Ter)

HGVS:

NC_000002.12:g.37114764dup
NG_030351.1:g.47284dup
NG_030351.2:g.47216dup
NM_001135651.3:c.1344dupMANE SELECT
NM_001135652.2:c.1221dup
NM_002759.4:c.1344dup
NP_001129123.1:p.Lys449Ter
NP_001129124.1:p.Lys408Ter
NP_002750.1:p.Lys449Ter
NC_000002.11:g.37341907dup
NM_002759.3:c.1344dup

Protein change:

K408*

Molecular consequence:

NM_001135651.3:c.1344dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001135652.2:c.1221dup - nonsense - [Sequence Ontology: SO:0001587]
NM_002759.4:c.1344dup - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004035359	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Mar 12, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004035359

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Mar 12, 2023)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV004035359.1

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

Description

Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene or region of a gene for which loss of function is not a well-established mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge

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

Last Updated: Sep 23, 2023

ClinVar

Relating variation to medicine