NM_004096.5(EIF4EBP2):c.308A>G (p.Asn103Ser) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 16, 2021
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:: RCV004203254.1

Allele description [Variation Report for NM_004096.5(EIF4EBP2):c.308A>G (p.Asn103Ser)]

NM_004096.5(EIF4EBP2):c.308A>G (p.Asn103Ser)

Gene:

EIF4EBP2:eukaryotic translation initiation factor 4E binding protein 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q22.1

Genomic location:

Preferred name:

NM_004096.5(EIF4EBP2):c.308A>G (p.Asn103Ser)

HGVS:

NC_000010.11:g.70420076A>G
NM_004096.5:c.308A>GMANE SELECT
NP_004087.1:p.Asn103Ser
NC_000010.10:g.72179832A>G
NM_004096.4:c.308A>G

Protein change:

N103S

Molecular consequence:

NM_004096.5:c.308A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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Bacillus mycoides, scrambled miRNA mix, 20min, rep1
Bacillus mycoides, scrambled miRNA mix, 20min, rep1

biosample
SAMN41511809 (1)
SRA
Staphylococcus intermedius strain 14S03307-1, whole genome shotgun sequencing pr...
Staphylococcus intermedius strain 14S03307-1, whole genome shotgun sequencing project
gi|1246741349|gb|MWRT00000000.1|MWR 0000

Nucleotide
Homo sapiens proteasomal ATPase associated factor 1 (PAAF1), transcript variant ...
Homo sapiens proteasomal ATPase associated factor 1 (PAAF1), transcript variant 2, mRNA
gi|1677500812|ref|NM_001267804.2|

Nucleotide
MAG: Bacteriophage sp. isolate 4339_70478, partial genome
MAG: Bacteriophage sp. isolate 4339_70478, partial genome
gi|2293624117|gb|OP072919.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003701143	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Aug 16, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003701143

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Aug 16, 2021)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV003701143.2

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

Description

The c.308A>G (p.N103S) alteration is located in exon 2 (coding exon 2) of the EIF4EBP2 gene. This alteration results from a A to G substitution at nucleotide position 308, causing the asparagine (N) at amino acid position 103 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Nov 10, 2024

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