NM_014874.3(MFN2):c.1403G>A (p.Arg468His) AND Hereditary motor and sensory neuropathy

Clinical significance:Likely benign (Last evaluated: Jun 14, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000312138.1

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:
Hereditary motor and sensory neuropathy
Identifiers:
MedGen: C0027888

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000347988Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
    Likely benign
    (Jun 14, 2016)
    germlineclinical testing

    PubMed (6)
    [See all records that cite these PMIDs]

    ICSL_Variant_Classification_20161018.pdf

    Summary from all submissions

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

    Citations

    PubMed

    Charcot-Marie-Tooth neuropathy type 2A: novel mutations in the mitofusin 2 gene (MFN2).

    Engelfried K, Vorgerd M, Hagedorn M, Haas G, Gilles J, Epplen JT, Meins M.

    BMC Med Genet. 2006 Jun 8;7:53.

    PubMed [citation]
    PMID:
    16762064
    PMCID:
    PMC1524942

    Phenotypic spectrum of MFN2 mutations in the Spanish population.

    Casasnovas C, Banchs I, Cassereau J, Gueguen N, Chevrollier A, Martínez-Matos JA, Bonneau D, Volpini V.

    J Med Genet. 2010 Apr;47(4):249-56. doi: 10.1136/jmg.2009.072488. Epub 2009 Nov 3.

    PubMed [citation]
    PMID:
    19889647
    See all PubMed Citations (6)

    Details of each submission

    From Illumina Clinical Services Laboratory,Illumina, SCV000347988.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not providednot providednot providednot providedclinical testing PubMed (6)
    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

    Last Updated: Dec 6, 2016