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

Clinical significance:Conflicting interpretations of pathogenicity, Likely benign(1);Uncertain significance(1) (Last evaluated: Apr 20, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000196650.3

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:
3

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000251700GeneDxcriteria provided, single submitter
Likely benign
(Apr 20, 2017)
germlineclinical testing

Citation Link,

SCV000331380EGL Genetic Diagnostics,Eurofins Clinical Diagnosticscriteria provided, single submitter
Uncertain significance
(Nov 19, 2015)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknown3not providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000251700.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From EGL Genetic Diagnostics,Eurofins Clinical Diagnostics, SCV000331380.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided3not providednot providednot provided

Last Updated: Mar 23, 2018