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NM_001417.7(EIF4B):c.1244G>A (p.Arg415Gln) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 9, 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:
RCV004235289.1

Allele description [Variation Report for NM_001417.7(EIF4B):c.1244G>A (p.Arg415Gln)]

NM_001417.7(EIF4B):c.1244G>A (p.Arg415Gln)

Gene:
EIF4B:eukaryotic translation initiation factor 4B [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q13.13
Genomic location:
Preferred name:
NM_001417.7(EIF4B):c.1244G>A (p.Arg415Gln)
HGVS:
  • NC_000012.12:g.53034647G>A
  • NM_001300821.3:c.1244G>A
  • NM_001330654.2:c.1127G>A
  • NM_001417.7:c.1244G>AMANE SELECT
  • NP_001287750.1:p.Arg415Gln
  • NP_001317583.1:p.Arg376Gln
  • NP_001408.2:p.Arg415Gln
  • NC_000012.11:g.53428431G>A
  • NM_001417.4:c.1244G>A
Protein change:
R376Q
Molecular consequence:
  • NM_001300821.3:c.1244G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330654.2:c.1127G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001417.7:c.1244G>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
SCV003751299Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jun 9, 2022) 		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, SCV003751299.2

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

Description

The c.1244G>A (p.R415Q) alteration is located in exon 10 (coding exon 10) of the EIF4B gene. This alteration results from a G to A substitution at nucleotide position 1244, causing the arginine (R) at amino acid position 415 to be replaced by a glutamine (Q). 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: Oct 26, 2024