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NM_000399.5(EGR2):c.711C>A (p.Asp237Glu) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 16, 2024
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:
RCV002372804.4

Allele description [Variation Report for NM_000399.5(EGR2):c.711C>A (p.Asp237Glu)]

NM_000399.5(EGR2):c.711C>A (p.Asp237Glu)

Gene:
EGR2:early growth response 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q21.3
Genomic location:
Preferred name:
NM_000399.5(EGR2):c.711C>A (p.Asp237Glu)
HGVS:
  • NC_000010.11:g.62813927G>T
  • NG_008936.2:g.110974C>A
  • NM_000399.5:c.711C>AMANE SELECT
  • NM_001136177.3:c.711C>A
  • NM_001136178.2:c.711C>A
  • NM_001136179.3:c.561C>A
  • NM_001321037.2:c.561C>A
  • NP_000390.2:p.Asp237Glu
  • NP_001129649.1:p.Asp237Glu
  • NP_001129650.1:p.Asp237Glu
  • NP_001129651.1:p.Asp187Glu
  • NP_001307966.1:p.Asp187Glu
  • LRG_239t1:c.711C>A
  • LRG_239:g.110974C>A
  • NC_000010.10:g.64573687G>T
  • NM_000399.3:c.711C>A
Protein change:
D187E
Links:
dbSNP: rs1011150442
NCBI 1000 Genomes Browser:
rs1011150442
Molecular consequence:
  • NM_000399.5:c.711C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001136177.3:c.711C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001136178.2:c.711C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001136179.3:c.561C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001321037.2:c.561C>A - missense variant - [Sequence Ontology: SO:0001583]

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
SCV002668316Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jun 16, 2024) 		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, SCV002668316.3

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

Description

The alteration results in an amino acid change: The c.711C>A (p.D237E) alteration is located in coding exon 2 of the EGR2 gene. This alteration results from a C to A substitution at nucleotide position 711, causing the aspartic acid (D) at amino acid position 237 to be replaced by a glutamic acid (E). The alteration has been observed in population databases: Based on data from the Genome Aggregation Database (gnomAD), the c.711C>A alteration was observed in 0.0018% (5/282,872) of total alleles studied, with a frequency of 0.0039% (5/129,186) in the European, non-Finnish subpopulation. The altered amino acid is conserved throughout evolution: The p.D237 amino acid is conserved in available vertebrate species, except in zebra finch, Atlantic cod, and lamprey. The alteration is predicted benign by in silico models: The p.D237E alteration is predicted to be benign by Polyphen and tolerated by SIFT in silico analyses. 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 20, 2024