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NM_014874.4(MFN2):c.986_988del (p.Glu329del) 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:
RCV000789371.1

Allele description [Variation Report for NM_014874.4(MFN2):c.986_988del (p.Glu329del)]

NM_014874.4(MFN2):c.986_988del (p.Glu329del)

Gene:
MFN2:mitofusin 2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
1p36.22
Genomic location:
Preferred name:
NM_014874.4(MFN2):c.986_988del (p.Glu329del)
HGVS:
  • NC_000001.11:g.12001784_12001786del
  • NG_007945.1:g.26604_26606del
  • NM_001127660.2:c.986_988del
  • NM_014874.4:c.986_988delMANE SELECT
  • NP_001121132.1:p.Glu329del
  • NP_055689.1:p.Glu329del
  • LRG_255:g.26604_26606del
  • NC_000001.10:g.12061841_12061843del
  • NM_014874.3:c.986_988delAAG
Protein change:
E329del
Links:
dbSNP: rs1569853108
NCBI 1000 Genomes Browser:
rs1569853108
Molecular consequence:
  • NM_001127660.2:c.986_988del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_014874.4:c.986_988del - inframe_deletion - [Sequence Ontology: SO:0001822]

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
SCV000928726Inherited 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

Mutation analysis of MFN2, GJB1, MPZ and PMP22 in Italian patients with axonal Charcot-Marie-Tooth disease.

Bergamin G, Boaretto F, Briani C, Pegoraro E, Cacciavillani M, Martinuzzi A, Muglia M, Vettori A, Vazza G, Mostacciuolo ML.

Neuromolecular Med. 2014 Sep;16(3):540-50. doi: 10.1007/s12017-014-8307-9. Epub 2014 May 13.

PubMed [citation]
PMID:
24819634

Details of each submission

From Inherited Neuropathy Consortium, SCV000928726.1

#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: Apr 23, 2022