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NM_000399.5(EGR2):c.1225C>T (p.Arg409Trp) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 21, 2023
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:
RCV003482227.2

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_000399.4:c.1225C>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)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004229623Athena Diagnostics
criteria provided, single submitter

(Athena Diagnostics Criteria)		Pathogenic
(Apr 21, 2023) 		unknownclinical testing

PubMed (7)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies.

Warner LE, Mancias P, Butler IJ, McDonald CM, Keppen L, Koob KG, Lupski JR.

Nat Genet. 1998 Apr;18(4):382-4.

PubMed [citation]
PMID:
9537424

Survey of variation in human transcription factors reveals prevalent DNA binding changes.

Barrera LA, Vedenko A, Kurland JV, Rogers JM, Gisselbrecht SS, Rossin EJ, Woodard J, Mariani L, Kock KH, Inukai S, Siggers T, Shokri L, Gordân R, Sahni N, Cotsapas C, Hao T, Yi S, Kellis M, Daly MJ, Vidal M, Hill DE, Bulyk ML.

Science. 2016 Mar 25;351(6280):1450-1454. doi: 10.1126/science.aad2257. Epub 2016 Mar 24.

PubMed [citation]
PMID:
27013732
PMCID:
PMC4825693
See all PubMed Citations (7)

Details of each submission

From Athena Diagnostics, SCV004229623.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (7)

Description

This variant has been identified in at least one individual with clinical features associated with this CMT. This variant has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). In some published literature, this variant is referred to as R359W. Assessment of experimental evidence suggests this variant results in abnormal protein function. (PMID: 10369870, 26204789) The variant is located in a region that is considered important for protein function and/or structure.

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

Last Updated: Sep 29, 2024