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NM_014874.4(MFN2):c.1426C>G (p.Arg476Gly)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Dec 18, 2017)
Last evaluated:
Dec 18, 2017
Accession:
VCV000523025.2
Variation ID:
523025
Description:
single nucleotide variant
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NM_014874.4(MFN2):c.1426C>G (p.Arg476Gly)

Allele ID
513488
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p36.22
Genomic location
1: 12004858 (GRCh38) GRCh38 UCSC
1: 12064915 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_255:g.29678C>G
LRG_255t1:c.1426C>G LRG_255p1:p.Arg476Gly
NM_014874.3:c.1426C>G NP_055689.1:p.Arg476Gly missense
... more HGVS
Protein change
R476G
Other names
-
Canonical SPDI
NC_000001.11:12004857:C:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA338446686
dbSNP: rs1266361856
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Dec 18, 2017 RCV000626228.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
MFN2 No evidence available No evidence available GRCh38
GRCh37
775 822

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Dec 18, 2017)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease, type 2A2A
Allele origin: inherited
Genomic Research Center,Shahid Beheshti University of Medical Sciences
Accession: SCV000746875.1
Submitted: (Dec 18, 2017)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs1266361856...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 24, 2021