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NM_014874.4(MFN2):c.2119C>T (p.Arg707Trp) AND multiple conditions

Germline classification:
not provided (1 submission)
Review status:
no classification provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV002508915.9

Allele description [Variation Report for NM_014874.4(MFN2):c.2119C>T (p.Arg707Trp)]

NM_014874.4(MFN2):c.2119C>T (p.Arg707Trp)

Gene:
MFN2:mitofusin 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p36.22
Genomic location:
Preferred name:
NM_014874.4(MFN2):c.2119C>T (p.Arg707Trp)
Other names:
p.R707W:CGG>TGG; NM_001127660.1(MFN2):c.2119C>T(p.Arg707Trp); NM_014874.3(MFN2):c.2119C>T(p.Arg707Trp)
HGVS:
  • NC_000001.11:g.12009641C>T
  • NG_007945.1:g.34461C>T
  • NM_001127660.1:c.2119C>T
  • NM_001127660.2:c.2119C>T
  • NM_014874.4:c.2119C>TMANE SELECT
  • NP_001121132.1:p.Arg707Trp
  • NP_055689.1:p.Arg707Trp
  • NP_055689.1:p.Arg707Trp
  • LRG_255t1:c.2119C>T
  • LRG_255:g.34461C>T
  • LRG_255p1:p.Arg707Trp
  • NC_000001.10:g.12069698C>T
  • NM_014874.3:c.2119C>T
  • NM_014874.4:c.2119C>T
  • p.Arg707Trp
Protein change:
R707W; ARG707TRP
Links:
OMIM: 608507.0013; dbSNP: rs119103267
NCBI 1000 Genomes Browser:
rs119103267
Molecular consequence:
  • NM_001127660.2:c.2119C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014874.4:c.2119C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hereditary motor and sensory neuropathy with optic atrophy
Synonyms:
CHARCOT-MARIE-TOOTH DISEASE, TYPE 6; PERIPHERAL NEUROPATHY AND OPTIC ATROPHY
Identifiers:
MONDO: MONDO:0019551; MedGen: C0393807
Name:
Charcot-Marie-Tooth disease, type 2A (CMT2A)
Synonyms:
Charcot-Marie-Tooth disease, axonal, Type 2A; Charcot-Marie-Tooth disease, neuronal, Type 2A; Hereditary motor and sensory neuropathy 2 A; See all synonyms [MedGen]
Identifiers:
MedGen: C2079538

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002818389GenomeConnect, ClinGen
no classification provided
not providedpaternalphenotyping only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedpaternalunknownnot providednot providednot providednot providednot providedphenotyping only

Details of each submission

From GenomeConnect, ClinGen, SCV002818389.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedphenotyping onlynot provided

Description

Variant classified as Likely pathogenic and reported on 03-29-2017 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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

Last Updated: Sep 16, 2024