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NM_004096.5(EIF4EBP2):c.67G>A (p.Ala23Thr) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 17, 2024
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:
RCV004377841.1

Allele description [Variation Report for NM_004096.5(EIF4EBP2):c.67G>A (p.Ala23Thr)]

NM_004096.5(EIF4EBP2):c.67G>A (p.Ala23Thr)

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.67G>A (p.Ala23Thr)
HGVS:
  • NC_000010.11:g.70404468G>A
  • NG_183454.1:g.332G>A
  • NM_004096.5:c.67G>AMANE SELECT
  • NP_004087.1:p.Ala23Thr
  • NC_000010.10:g.72164224G>A
  • NM_004096.4:c.67G>A
Protein change:
A23T
Molecular consequence:
  • NM_004096.5:c.67G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004863928Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Feb 17, 2024) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV004863928.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.67G>A (p.A23T) alteration is located in exon 1 (coding exon 1) of the EIF4EBP2 gene. This alteration results from a G to A substitution at nucleotide position 67, causing the alanine (A) at amino acid position 23 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 7, 2024