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NM_000399.5(EGR2):c.897AGC[6] (p.Ala309dup) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 27, 2023
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:
RCV002266966.10

Allele description [Variation Report for NM_000399.5(EGR2):c.897AGC[6] (p.Ala309dup)]

NM_000399.5(EGR2):c.897AGC[6] (p.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.897AGC[6] (p.Ala309dup)
HGVS:
  • NC_000010.11:g.62813728CTG[6]
  • NG_008936.2:g.111160AGC[6]
  • NM_000399.5:c.897AGC[6]MANE SELECT
  • NM_001136177.3:c.897AGC[6]
  • NM_001136178.2:c.897AGC[6]
  • NM_001136179.3:c.747AGC[6]
  • NM_001321037.2:c.747AGC[6]
  • NP_000390.2:p.Ala309dup
  • NP_001129649.1:p.Ala309dup
  • NP_001129650.1:p.Ala309dup
  • NP_001129651.1:p.Ala259dup
  • NP_001307966.1:p.Ala259dup
  • LRG_239t1:c.909_911dup
  • LRG_239:g.111160AGC[6]
  • NC_000010.10:g.64573486_64573487insGCT
  • NC_000010.10:g.64573488CTG[6]
  • NM_000399.3:c.909_911dup
  • NM_000399.3:c.909_911dupAGC
Links:
dbSNP: rs746688326
NCBI 1000 Genomes Browser:
rs746688326
Molecular consequence:
  • NM_000399.5:c.897AGC[6] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001136177.3:c.897AGC[6] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001136178.2:c.897AGC[6] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001136179.3:c.747AGC[6] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001321037.2:c.747AGC[6] - 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
SCV000566550GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Mar 27, 2023) 		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, SCV000566550.7

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

Description

Observed in an individual with Charcot-Marie-Tooth disease in published literature; however, no further clinical information was provided (Volodarsky et al., 2021); In silico analysis supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 32376792)

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

Last Updated: Nov 10, 2024