NM_000399.5(EGR2):c.1225C>T (p.Arg409Trp) AND Charcot-Marie-Tooth disease, demyelinating, type 1d

Clinical significance:Pathogenic (Last evaluated: Oct 18, 2012)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000018234.25

Allele description [Variation Report for NM_000399.5(EGR2):c.1225C>T (p.Arg409Trp)]

NM_000399.5(EGR2):c.1225C>T (p.Arg409Trp)

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.1225C>T (p.Arg409Trp)
HGVS:
  • NC_000010.11:g.62813413G>A
  • NG_008936.2:g.111488C>T
  • NM_000399.5:c.1225C>TMANE SELECT
  • NM_001136177.3:c.1225C>T
  • NM_001136178.2:c.1225C>T
  • NM_001136179.3:c.1075C>T
  • NM_001321037.2:c.1075C>T
  • NP_000390.2:p.Arg409Trp
  • NP_001129649.1:p.Arg409Trp
  • NP_001129650.1:p.Arg409Trp
  • NP_001129651.1:p.Arg359Trp
  • NP_001307966.1:p.Arg359Trp
  • LRG_239t1:c.1225C>T
  • LRG_239:g.111488C>T
  • NC_000010.10:g.64573173G>A
  • NM_000399.3:c.1225C>T
  • P11161:p.Arg409Trp
Protein change:
R359W; ARG409TRP
Links:
UniProtKB: P11161#VAR_007738; OMIM: 129010.0002; dbSNP: rs104894159
NCBI 1000 Genomes Browser:
rs104894159
Molecular consequence:
  • NM_000399.5:c.1225C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001136177.3:c.1225C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001136178.2:c.1225C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001136179.3:c.1075C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001321037.2:c.1075C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Charcot-Marie-Tooth disease, demyelinating, type 1d (CMT1D)
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

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000038513OMIMno assertion criteria providedPathogenic
(Jan 14, 2003)
germlineliterature only

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

Warner, L. E., Mancias, P., Butler, I., Lupski, J. R. Mutation in the early growth response 2 (EGR2) transcription factor associated with recessive congenital hypomyelinating neuropathy (CHN). (Abstract) Am. J. Hum. Genet. 61 (suppl.): A350-only, 1997.,

SCV000055672GeneReviewsno assertion criteria providedpathologic
(Oct 18, 2012)
not providedcuration

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only
not providednot providednot providednot providednot providednot providednot providednot providedcuration

Citations

PubMed

Mutation of a putative protein degradation gene LITAF/SIMPLE in Charcot-Marie-Tooth disease 1C.

Street VA, Bennett CL, Goldy JD, Shirk AJ, Kleopa KA, Tempel BL, Lipe HP, Scherer SS, Bird TD, Chance PF.

Neurology. 2003 Jan 14;60(1):22-6.

PubMed [citation]
PMID:
12525712

Details of each submission

From OMIM, SCV000038513.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a family in which the proband, his mother, and his half sister had CMT1D (607678), Warner et al. (1998) found that affected members had a heterozygous C-to-T transition in the EGR2 gene that predicted an arg409-to-trp substitution within the third zinc finger of the protein. CMT1 was diagnosed in the proband at age 15 years. His mother had been diagnosed at the age of 37 years, but described her initial symptoms as occurring during her first pregnancy at age 18 years. Nerve conduction velocities were markedly slowed.

The form of Charcot-Marie-Tooth disease type 1 caused by mutations in the EGR2 gene was referred to by Street et al. (2003) as CMT1D.

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

From GeneReviews, SCV000055672.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

Converted during submission to Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot providednot providednot providedAssert pathogenicitynot providednot providednot providednot provided

Last Updated: Oct 30, 2021

Support Center