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NM_000399.5(EGR2):c.910GCC[7] (p.Ala309dup) AND Inborn genetic diseases

Germline classification:
Likely benign (1 submission)
Last evaluated:
Nov 19, 2019
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:
RCV002374877.2

Allele description [Variation Report for NM_000399.5(EGR2):c.910GCC[7] (p.Ala309dup)]

NM_000399.5(EGR2):c.910GCC[7] (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.910GCC[7] (p.Ala309dup)
HGVS:
  • NC_000010.11:g.62813711GGC[7]
  • NG_008936.2:g.111173GCC[7]
  • NM_000399.5:c.910GCC[7]MANE SELECT
  • NM_001136177.3:c.910GCC[7]
  • NM_001136178.2:c.910GCC[7]
  • NM_001136179.3:c.760GCC[7]
  • NM_001321037.2:c.760GCC[7]
  • 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.925_927dup
  • LRG_239:g.111173GCC[7]
  • NC_000010.10:g.64573470_64573471insGGC
  • NC_000010.10:g.64573471GGC[7]
  • NM_000399.3:c.925_927dup
  • NM_000399.3:c.925_927dupGCC
  • NM_000399.4:c.925_927dup
  • NM_000399.5:c.925_927dupMANE SELECT
Links:
dbSNP: rs753747037
NCBI 1000 Genomes Browser:
rs753747037
Molecular consequence:
  • NM_000399.5:c.910GCC[7] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001136177.3:c.910GCC[7] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001136178.2:c.910GCC[7] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001136179.3:c.760GCC[7] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001321037.2:c.760GCC[7] - inframe_insertion - [Sequence Ontology: SO:0001821]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002686482Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Nov 19, 2019) 		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, SCV002686482.2

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Sep 29, 2024