NM_014874.3(MFN2):c.1403G>A (p.Arg468His) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Jan 31, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000487518.1

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)
Other names:
p.R468H:CGC>CAC
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
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]
Observations:
2

Condition(s)

Identifiers:
MedGen: CN221809

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000574747Praxis fuer Humangenetik Tuebingen,criteria provided, single submitter
Uncertain significance
(Jan 31, 2017)
germlineclinical testing

PHGTv1.pdf

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes2not providednot providednot providednot providedclinical testing

Details of each submission

From Praxis fuer Humangenetik Tuebingen,, SCV000574747.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided2not providednot providednot provided

Last Updated: May 8, 2017