NM_014874.4(MFN2):c.491C>T (p.Ala164Val) AND Charcot-Marie-Tooth disease

Clinical significance:Uncertain significance

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

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000790032.1

Allele description [Variation Report for NM_014874.4(MFN2):c.491C>T (p.Ala164Val)]

NM_014874.4(MFN2):c.491C>T (p.Ala164Val)

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.491C>T (p.Ala164Val)
Other names:
NM_001127660.1:c.491C>T(p.Ala164Val); NM_014874.3:c.491C>T(p.Ala164Val)
HGVS:
  • NC_000001.11:g.11997313C>T
  • NG_007945.1:g.22133C>T
  • NM_001127660.2:c.491C>T
  • NM_014874.3:c.491C>T
  • NM_014874.4:c.491C>TMANE SELECT
  • NP_001121132.1:p.Ala164Val
  • NP_055689.1:p.Ala164Val
  • NP_055689.1:p.Ala164Val
  • LRG_255t1:c.491C>T
  • LRG_255:g.22133C>T
  • LRG_255p1:p.Ala164Val
  • NC_000001.10:g.12057370C>T
Protein change:
A164V
Links:
dbSNP: rs1553142699
NCBI 1000 Genomes Browser:
rs1553142699
Molecular consequence:
  • NM_001127660.2:c.491C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014874.3:c.491C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014874.4:c.491C>T - 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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000929422Inherited Neuropathy Consortiumno assertion criteria providedUncertain significancegermlineliterature only

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Severe early-onset axonal neuropathy with homozygous and compound heterozygous MFN2 mutations.

Nicholson GA, Magdelaine C, Zhu D, Grew S, Ryan MM, Sturtz F, Vallat JM, Ouvrier RA.

Neurology. 2008 May 6;70(19):1678-81. doi: 10.1212/01.wnl.0000311275.89032.22.

PubMed [citation]
PMID:
18458227

Details of each submission

From Inherited Neuropathy Consortium, SCV000929422.1

#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: Oct 30, 2021

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