NM_014874.3(MFN2):c.1403G>A (p.Arg468His) AND Charcot-Marie-Tooth disease, type 2

Clinical significance:Benign (Last evaluated: Jan 17, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000229623.1

Allele description

NM_014874.3(MFN2):c.1403G>A (p.Arg468His)

Gene:
MFN2:mitofusin 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p36.22
Genomic location:
Preferred name:
NM_014874.3(MFN2):c.1403G>A (p.Arg468His)
HGVS:
  • NC_000001.11:g.12004835G>A
  • NG_007945.1:g.29655G>A
  • NM_014874.3:c.1403G>A
  • NP_055689.1:p.Arg468His
  • LRG_255t1:c.1403G>A
  • LRG_255:g.29655G>A
  • LRG_255p1:p.Arg468His
  • NC_000001.10:g.12064892G>A
  • p.R468H:CGC>CAC
Protein change:
R468H; ARG468HIS
Links:
OMIM: 608507.0015; dbSNP: rs138382758
GMAF:
0.0020(A), 138382758
NCBI 1000 Genomes Browser:
rs138382758
Allele Frequency:
0.0019, GO-ESP
Molecular consequence:
  • NM_014874.3:c.1403G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Charcot-Marie-Tooth disease, type 2
Identifiers:
MedGen: CN043576

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000290025Invitaecriteria provided, single submitter
Benign
(Jan 17, 2016)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Invitae, SCV000290025.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 30, 2016