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NM_198241.3(EIF4G1):c.1395AGGAGAAGC[2] (p.466GEA[2]) AND not specified

Germline classification:
Benign (2 submissions)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001579598.2

Allele description [Variation Report for NM_198241.3(EIF4G1):c.1395AGGAGAAGC[2] (p.466GEA[2])]

NM_198241.3(EIF4G1):c.1395AGGAGAAGC[2] (p.466GEA[2])

Gene:
EIF4G1:eukaryotic translation initiation factor 4 gamma 1 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
3q27.1
Genomic location:
Preferred name:
NM_198241.3(EIF4G1):c.1395AGGAGAAGC[2] (p.466GEA[2])
HGVS:
  • NC_000003.12:g.184321979AGGAGAAGC[2]
  • NG_016850.1:g.12412AGGAGAAGC[2]
  • NM_001194946.2:c.1416AGGAGAAGC[2]
  • NM_001194947.2:c.1416AGGAGAAGC[2]
  • NM_001291157.2:c.1275AGGAGAAGC[2]
  • NM_004953.5:c.807AGGAGAAGC[2]
  • NM_182917.4:c.1395AGGAGAAGC[2]
  • NM_198241.2:c.1413_1421del9
  • NM_198241.3:c.1395AGGAGAAGC[2]MANE SELECT
  • NM_198242.3:c.903AGGAGAAGC[2]
  • NM_198244.3:c.1134AGGAGAAGC[2]
  • NP_001181875.2:p.473GEA[2]
  • NP_001181876.2:p.473GEA[2]
  • NP_001278086.2:p.426GEA[2]
  • NP_004944.3:p.270GEA[2]
  • NP_886553.3:p.466GEA[2]
  • NP_937884.2:p.466GEA[2]
  • NP_937885.1:p.302GEA[2]
  • NP_937887.2:p.379GEA[2]
  • NC_000003.11:g.184039767AGGAGAAGC[2]
Links:
dbSNP: rs111659103
NCBI 1000 Genomes Browser:
rs111659103
Molecular consequence:
  • NM_001194946.2:c.1416AGGAGAAGC[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001194947.2:c.1416AGGAGAAGC[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001291157.2:c.1275AGGAGAAGC[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_004953.5:c.807AGGAGAAGC[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_182917.4:c.1395AGGAGAAGC[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_198241.3:c.1395AGGAGAAGC[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_198242.3:c.903AGGAGAAGC[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_198244.3:c.1134AGGAGAAGC[2] - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001807851Genome Diagnostics Laboratory, Amsterdam University Medical Center - VKGL Data-share Consensus
no assertion criteria provided
Benigngermlineclinical testing

SCV001974749Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus

See additional submitters

no assertion criteria provided
Benigngermlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Genome Diagnostics Laboratory, Amsterdam University Medical Center - VKGL Data-share Consensus, SCV001807851.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus, SCV001974749.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 13, 2024