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NM_000399.5(EGR2):c.1057C>G (p.Arg353Gly) AND Charcot-Marie-Tooth disease type 1D

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 6, 2016
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV003447250.1

Allele description [Variation Report for NM_000399.5(EGR2):c.1057C>G (p.Arg353Gly)]

NM_000399.5(EGR2):c.1057C>G (p.Arg353Gly)

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.1057C>G (p.Arg353Gly)
HGVS:
  • NC_000010.11:g.62813581G>C
  • NG_008936.2:g.111320C>G
  • NM_000399.5:c.1057C>GMANE SELECT
  • NM_001136177.3:c.1057C>G
  • NM_001136178.2:c.1057C>G
  • NM_001136179.3:c.907C>G
  • NM_001321037.2:c.907C>G
  • NP_000390.2:p.Arg353Gly
  • NP_001129649.1:p.Arg353Gly
  • NP_001129650.1:p.Arg353Gly
  • NP_001129651.1:p.Arg303Gly
  • NP_001307966.1:p.Arg303Gly
  • LRG_239t1:c.1057C>G
  • LRG_239:g.111320C>G
  • NC_000010.10:g.64573341G>C
  • NM_000399.3:c.1057C>G
Protein change:
R303G
Links:
dbSNP: rs1589080632
NCBI 1000 Genomes Browser:
rs1589080632
Molecular consequence:
  • NM_000399.5:c.1057C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001136177.3:c.1057C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001136178.2:c.1057C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001136179.3:c.907C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001321037.2:c.907C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Charcot-Marie-Tooth disease type 1D
Synonyms:
CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 1D; HMSN ID; CMT 1D; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0011890; MedGen: C1843247; Orphanet: 101084; OMIM: 607678

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004174368Inherited Neuropathy Consortium Ii, University Of Miami
no assertion criteria provided
Uncertain significance
(Jan 6, 2016) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Vincristine exacerbates asymptomatic Charcot-Marie-tooth disease with a novel EGR2 mutation.

Nakamura T, Hashiguchi A, Suzuki S, Uozumi K, Tokunaga S, Takashima H.

Neurogenetics. 2012 Feb;13(1):77-82. doi: 10.1007/s10048-012-0313-1. Epub 2012 Jan 25.

PubMed [citation]
PMID:
22271166

Details of each submission

From Inherited Neuropathy Consortium Ii, University Of Miami, SCV004174368.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 16, 2024