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NM_014874.4(MFN2):c.1984A>G (p.Lys662Glu) 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:
RCV000790006.1

Allele description [Variation Report for NM_014874.4(MFN2):c.1984A>G (p.Lys662Glu)]

NM_014874.4(MFN2):c.1984A>G (p.Lys662Glu)

Gene:
MFN2:mitofusin 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p36.22
Genomic location:
Preferred name:
NM_014874.4(MFN2):c.1984A>G (p.Lys662Glu)
HGVS:
  • NC_000001.11:g.12007164A>G
  • NG_007945.1:g.31984A>G
  • NM_001127660.2:c.1984A>G
  • NM_014874.4:c.1984A>GMANE SELECT
  • NP_001121132.1:p.Lys662Glu
  • NP_055689.1:p.Lys662Glu
  • NP_055689.1:p.Lys662Glu
  • LRG_255t1:c.1984A>G
  • LRG_255:g.31984A>G
  • LRG_255p1:p.Lys662Glu
  • NC_000001.10:g.12067221A>G
  • NM_014874.3:c.1984A>G
Protein change:
K662E
Links:
dbSNP: rs1569871448
NCBI 1000 Genomes Browser:
rs1569871448
Molecular consequence:
  • NM_001127660.2:c.1984A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014874.4:c.1984A>G - 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
SCV000929396Inherited 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

Charcot-Marie-Tooth disease type 2A: from typical to rare phenotypic and genotypic features.

Bombelli F, Stojkovic T, Dubourg O, Echaniz-Laguna A, Tardieu S, Larcher K, Amati-Bonneau P, Latour P, Vignal O, Cazeneuve C, Brice A, Leguern E.

JAMA Neurol. 2014 Aug;71(8):1036-42. doi: 10.1001/jamaneurol.2014.629. Review.

PubMed [citation]
PMID:
24957169

Details of each submission

From Inherited Neuropathy Consortium, SCV000929396.1

#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: Mar 4, 2023