NM_001958.5(EEF1A2):c.208G>A (p.Gly70Ser) AND not provided

Germline classification:: Pathogenic (3 submissions)
Last evaluated:: Apr 15, 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:: RCV000327695.27

Allele description [Variation Report for NM_001958.5(EEF1A2):c.208G>A (p.Gly70Ser)]

NM_001958.5(EEF1A2):c.208G>A (p.Gly70Ser)

Gene:

EEF1A2:eukaryotic translation elongation factor 1 alpha 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

20q13.33

Genomic location:

Preferred name:

NM_001958.5(EEF1A2):c.208G>A (p.Gly70Ser)

HGVS:

NC_000020.11:g.63495972C>T
NG_034083.1:g.8344G>A
NM_001958.5:c.208G>AMANE SELECT
NP_001949.1:p.Gly70Ser
NP_001949.1:p.Gly70Ser
NC_000020.10:g.62127325C>T
NM_001958.2:c.208G>A
NM_001958.3:c.208G>A
NM_001958.4:c.208G>A
Q05639:p.Gly70Ser

Protein change:

G70S; GLY70SER

Links:

UniProtKB: Q05639#VAR_069395; OMIM: 602959.0001; dbSNP: rs587777162

NCBI 1000 Genomes Browser:

rs587777162

Molecular consequence:

NM_001958.5:c.208G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000329965	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Apr 15, 2024)	germline	clinical testing	Citation Link,
SCV001249245	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Pathogenic (May 1, 2019)	germline	clinical testing	Citation Link,
SCV004171541	Department of Genetics, Robert DEBRE University Hospital	no assertion criteria provided	Pathogenic (Apr 8, 2019)	de novo	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000329965

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Pathogenic
(Apr 15, 2024)

germline

clinical testing

Citation Link,

SCV001249245

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Pathogenic
(May 1, 2019)

germline

clinical testing

Citation Link,

SCV004171541

Department of Genetics, Robert DEBRE University Hospital

no assertion criteria provided

Pathogenic
(Apr 8, 2019)

de novo

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
not provided	de novo	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000329965.7

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

Description

Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 23647072, 29455050, 28628100, 26795593, 27441201, 28191890, 28378778, 32062104, 33004838, 31440721, 32196822, 23033978)

#	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

From CeGaT Center for Human Genetics Tuebingen, SCV001249245.26

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

From Department of Genetics, Robert DEBRE University Hospital, SCV004171541.1

#	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	de novo	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 20, 2024

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