NM_001958.5(EEF1A2):c.271G>A (p.Asp91Asn) AND not provided

Germline classification:: Pathogenic (4 submissions)
Last evaluated:: Apr 20, 2022
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:: RCV000285537.10

Allele description [Variation Report for NM_001958.5(EEF1A2):c.271G>A (p.Asp91Asn)]

NM_001958.5(EEF1A2):c.271G>A (p.Asp91Asn)

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.271G>A (p.Asp91Asn)

HGVS:

NC_000020.11:g.63495909C>T
NG_034083.1:g.8407G>A
NM_001958.5:c.271G>AMANE SELECT
NP_001949.1:p.Asp91Asn
NP_001949.1:p.Asp91Asn
NC_000020.10:g.62127262C>T
NM_001958.3:c.271G>A
NM_001958.4:c.271G>A

Protein change:

D91N

Links:

dbSNP: rs886041197

NCBI 1000 Genomes Browser:

rs886041197

Molecular consequence:

NM_001958.5:c.271G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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Mus musculus ankyrin repeat and SOCS box-containing 18 (Asb18), transcript varia...
Mus musculus ankyrin repeat and SOCS box-containing 18 (Asb18), transcript variant 3, non-coding RNA
gi|1240431792|ref|NR_149309.1|

Nucleotide
Homo sapiens telomeric repeat binding factor (NIMA-interacting) 1, mRNA (cDNA cl...
Homo sapiens telomeric repeat binding factor (NIMA-interacting) 1, mRNA (cDNA clone IMAGE:4636019)
gi|48735008|gb|BC071975.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000329341	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Apr 20, 2022)	germline	clinical testing	Citation Link,
SCV001807276	Genome Diagnostics Laboratory, Amsterdam University Medical Center - VKGL Data-share Consensus	no assertion criteria provided	Likely pathogenic	germline	clinical testing
SCV001956244	Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ - VKGL Data-share Consensus See additional submitters Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	no assertion criteria provided	Pathogenic	germline	clinical testing
SCV004171542	Department of Genetics, Robert DEBRE University Hospital	no assertion criteria provided	Pathogenic (Jan 21, 2019)	de novo	clinical testing

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000329341.8

#	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: 28135719, 28191890, 31278258, 31893083, 32196822, 31785789, 27441201, 33644862)

#	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 Genome Diagnostics Laboratory, Amsterdam University Medical Center - VKGL Data-share Consensus, SCV001807276.1

#	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	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ - VKGL Data-share Consensus, SCV001956244.1

#	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	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Department of Genetics, Robert DEBRE University Hospital, SCV004171542.1

#	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 13, 2024

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