NM_000399.5(EGR2):c.1086A>C (p.Arg362=) AND not provided

Clinical significance:Benign (Last evaluated: Jul 29, 2019)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000857428.6

Allele description [Variation Report for NM_000399.5(EGR2):c.1086A>C (p.Arg362=)]

NM_000399.5(EGR2):c.1086A>C (p.Arg362=)

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.1086A>C (p.Arg362=)
HGVS:
  • NC_000010.11:g.62813552T>G
  • NG_008936.2:g.111349A>C
  • NM_000399.5:c.1086A>CMANE SELECT
  • NM_001136177.3:c.1086A>C
  • NM_001136178.2:c.1086A>C
  • NM_001136179.3:c.936A>C
  • NM_001321037.2:c.936A>C
  • NP_000390.2:p.Arg362=
  • NP_001129649.1:p.Arg362=
  • NP_001129650.1:p.Arg362=
  • NP_001129651.1:p.Arg312=
  • NP_001307966.1:p.Arg312=
  • LRG_239t1:c.1086A>C
  • LRG_239:g.111349A>C
  • NC_000010.10:g.64573312T>G
  • NM_000399.3:c.1086A>C
  • NM_000399.4:c.1086A>C
Links:
dbSNP: rs45602133
NCBI 1000 Genomes Browser:
rs45602133
Molecular consequence:
  • NM_000399.5:c.1086A>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001136177.3:c.1086A>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001136178.2:c.1086A>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001136179.3:c.936A>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001321037.2:c.936A>C - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001143858Athena Diagnostics Inccriteria provided, single submitter
Benign
(Jul 29, 2019)
germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

SCV001843114GeneDxcriteria provided, single submitter
Benign
(Mar 3, 2015)
germlineclinical testing

Citation Link

Summary from all submissions

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

Citations

PubMed

Novel missense mutation in the early growth response 2 gene associated with Dejerine-Sottas syndrome phenotype.

Timmerman V, De Jonghe P, Ceuterick C, De Vriendt E, Löfgren A, Nelis E, Warner LE, Lupski JR, Martin JJ, Van Broeckhoven C.

Neurology. 1999 Jun 10;52(9):1827-32.

PubMed [citation]
PMID:
10371530

Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients.

Choi BO, Lee MS, Shin SH, Hwang JH, Choi KG, Kim WK, Sunwoo IN, Kim NK, Chung KW.

Hum Mutat. 2004 Aug;24(2):185-6. Erratum in: Hum Mutat. 2004 Oct;24(4):350.

PubMed [citation]
PMID:
15241803
See all PubMed Citations (3)

Details of each submission

From Athena Diagnostics Inc, SCV001143858.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From GeneDx, SCV001843114.1

#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: Nov 27, 2021

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