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NM_000399.5(EGR2):c.897AGC[7] (p.Ala308_Ala309dup) AND Charcot-Marie-Tooth disease type 4E

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 30, 2020
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:
RCV001263156.1

Allele description [Variation Report for NM_000399.5(EGR2):c.897AGC[7] (p.Ala308_Ala309dup)]

NM_000399.5(EGR2):c.897AGC[7] (p.Ala308_Ala309dup)

Gene:
EGR2:early growth response 2 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
10q21.3
Genomic location:
Preferred name:
NM_000399.5(EGR2):c.897AGC[7] (p.Ala308_Ala309dup)
HGVS:
  • NC_000010.11:g.62813728CTG[7]
  • NG_008936.2:g.111160AGC[7]
  • NM_000399.5:c.897AGC[7]MANE SELECT
  • NM_001136177.3:c.897AGC[7]
  • NM_001136178.2:c.897AGC[7]
  • NM_001136179.3:c.747AGC[7]
  • NM_001321037.2:c.747AGC[7]
  • NP_000390.2:p.Ala308_Ala309dup
  • NP_001129649.1:p.Ala308_Ala309dup
  • NP_001129650.1:p.Ala308_Ala309dup
  • NP_001129651.1:p.Ala258_Ala259dup
  • NP_001307966.1:p.Ala258_Ala259dup
  • LRG_239t1:c.906_911dup
  • LRG_239:g.111160AGC[7]
  • NC_000010.10:g.64573486_64573487insGCTGCT
  • NC_000010.10:g.64573488CTG[7]
  • NM_000399.3:c.906_911dup
  • NM_001136178.1:c.906_911dup
Links:
dbSNP: rs746688326
NCBI 1000 Genomes Browser:
rs746688326
Molecular consequence:
  • NM_000399.5:c.897AGC[7] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001136177.3:c.897AGC[7] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001136178.2:c.897AGC[7] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001136179.3:c.747AGC[7] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001321037.2:c.747AGC[7] - inframe_insertion - [Sequence Ontology: SO:0001821]

Condition(s)

Name:
Charcot-Marie-Tooth disease type 4E (CHN1)
Synonyms:
CMT 4E; Hypomyelination, severe congenital; Congenital hypomyelinating neuropathy 1, autosomal recessive; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0011527; MedGen: C4721436; Orphanet: 99951; OMIM: 605253

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001441239Institute of Human Genetics, Cologne University
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Sep 30, 2020) 		germlineresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Institute of Human Genetics, Cologne University, SCV001441239.1

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

Last Updated: Oct 8, 2024