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NM_000399.5(EGR2):c.1064A>T (p.Asp355Val) AND Charcot-Marie-Tooth disease

Germline classification:
Uncertain significance (1 submission)
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:
RCV000789741.1

Allele description [Variation Report for NM_000399.5(EGR2):c.1064A>T (p.Asp355Val)]

NM_000399.5(EGR2):c.1064A>T (p.Asp355Val)

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.1064A>T (p.Asp355Val)
HGVS:
  • NC_000010.11:g.62813574T>A
  • NG_008936.2:g.111327A>T
  • NM_000399.5:c.1064A>TMANE SELECT
  • NM_001136177.3:c.1064A>T
  • NM_001136178.2:c.1064A>T
  • NM_001136179.3:c.914A>T
  • NM_001321037.2:c.914A>T
  • NP_000390.2:p.Asp355Val
  • NP_001129649.1:p.Asp355Val
  • NP_001129650.1:p.Asp355Val
  • NP_001129651.1:p.Asp305Val
  • NP_001307966.1:p.Asp305Val
  • LRG_239t1:c.1064A>T
  • LRG_239:g.111327A>T
  • NC_000010.10:g.64573334T>A
  • NM_000399.3:c.1064A>T
Protein change:
D305V
Links:
dbSNP: rs1589080611
NCBI 1000 Genomes Browser:
rs1589080611
Molecular consequence:
  • NM_000399.5:c.1064A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001136177.3:c.1064A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001136178.2:c.1064A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001136179.3:c.914A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001321037.2:c.914A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Charcot-Marie-Tooth disease
Synonyms:
Charcot-Marie-Tooth Neuropathy
Identifiers:
MONDO: MONDO:0015626; MedGen: C0007959; OMIM: PS118220

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000929119Inherited Neuropathy Consortium
no assertion criteria provided
Uncertain significancegermlineliterature 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

A novel mutation (D305V) in the early growth response 2 gene is associated with severe Charcot-Marie-Tooth type 1 disease.

Bellone E, Di Maria E, Soriani S, Varese A, Doria LL, Ajmar F, Mandich P.

Hum Mutat. 1999 Oct;14(4):353-4.

PubMed [citation]
PMID:
10502832

Details of each submission

From Inherited Neuropathy Consortium, SCV000929119.1

#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