NM_014874.4(MFN2):c.748C>T (p.Arg250Trp) AND Charcot-Marie-Tooth disease

Clinical significance:Uncertain significance (Last evaluated: Aug 14, 2019)

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

no assertion criteria provided

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000789065.2

Allele description [Variation Report for NM_014874.4(MFN2):c.748C>T (p.Arg250Trp)]

NM_014874.4(MFN2):c.748C>T (p.Arg250Trp)

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.748C>T (p.Arg250Trp)
HGVS:
  • NC_000001.11:g.11999027C>T
  • NG_007945.1:g.23847C>T
  • NM_001127660.2:c.748C>T
  • NM_014874.4:c.748C>TMANE SELECT
  • NP_001121132.1:p.Arg250Trp
  • NP_001121132.1:p.Arg250Trp
  • NP_055689.1:p.Arg250Trp
  • NP_055689.1:p.Arg250Trp
  • LRG_255t1:c.748C>T
  • LRG_255:g.23847C>T
  • LRG_255p1:p.Arg250Trp
  • NC_000001.10:g.12059084C>T
  • NM_001127660.1:c.748C>T
  • NM_014874.3:c.748C>T
Protein change:
R250W
Links:
dbSNP: rs373107074
NCBI 1000 Genomes Browser:
rs373107074
Molecular consequence:
  • NM_001127660.2:c.748C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014874.4:c.748C>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
SCV000928414Inherited Neuropathy Consortiumno assertion criteria providedUncertain significancegermlineliterature only

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

SCV000999673Genesis Genome Databaseno assertion criteria providedUncertain significance
(Aug 14, 2019)
germlineresearch

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch, literature only

Citations

PubMed

MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2.

Verhoeven K, Claeys KG, Züchner S, Schröder JM, Weis J, Ceuterick C, Jordanova A, Nelis E, De Vriendt E, Van Hul M, Seeman P, Mazanec R, Saifi GM, Szigeti K, Mancias P, Butler IJ, Kochanski A, Ryniewicz B, De Bleecker J, Van den Bergh P, Verellen C, Van Coster R, et al.

Brain. 2006 Aug;129(Pt 8):2093-102. Epub 2006 May 19.

PubMed [citation]
PMID:
16714318

Details of each submission

From Inherited Neuropathy Consortium, SCV000928414.1

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

From Genesis Genome Database, SCV000999673.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 4, 2021

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