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NM_000399.5(EGR2):c.910GCC[8] (p.Ala308_Ala309dup) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 15, 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:
RCV002276600.2

Allele description [Variation Report for NM_000399.5(EGR2):c.910GCC[8] (p.Ala308_Ala309dup)]

NM_000399.5(EGR2):c.910GCC[8] (p.Ala308_Ala309dup)

Gene:
EGR2:early growth response 2 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
10q21.3
Genomic location:
Preferred name:
NM_000399.5(EGR2):c.910GCC[8] (p.Ala308_Ala309dup)
HGVS:
  • NC_000010.11:g.62813711GGC[8]
  • NC_000010.11:g.62813711_62813713GGC[8]
  • NG_008936.2:g.111173GCC[8]
  • NM_000399.5:c.910GCC[8]MANE SELECT
  • NM_001136177.3:c.910GCC[8]
  • NM_001136178.2:c.910GCC[8]
  • NM_001136179.3:c.760GCC[8]
  • NM_001321037.2:c.760GCC[8]
  • NP_000390.2:p.Ala308_Ala309dup
  • NP_001129649.1:p.Ala308_Ala309dup
  • NP_001129650.1:p.Ala308_Ala309dup
  • NP_001129651.1:p.Ala258_Ala259dup
  • NP_001307966.1:p.Ala258_Ala259dup
  • LRG_239t1:c.922_927dup
  • LRG_239:g.111173GCC[8]
  • NC_000010.10:g.64573470_64573471insGGCGGC
  • NC_000010.10:g.64573471GGC[8]
  • NM_000399.3:c.922_927dup
Links:
dbSNP: rs753747037
NCBI 1000 Genomes Browser:
rs753747037
Molecular consequence:
  • NM_000399.5:c.910GCC[8] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001136177.3:c.910GCC[8] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001136178.2:c.910GCC[8] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001136179.3:c.760GCC[8] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001321037.2:c.760GCC[8] - inframe_insertion - [Sequence Ontology: SO:0001821]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002567695GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Aug 15, 2022) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV002567695.2

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

Description

Reported previously, as c.906_911dup, in the homozygous state as a variant of uncertain significance in an infant with severe infantile muscular atrophy (Keller et al., 2021); In-frame insertion of 2 amino acids in a repetitive region with no known function; This variant is associated with the following publications: (PMID: 33600046)

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

Last Updated: Sep 29, 2024