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NM_014874.4(MFN2):c.1150C>T (p.Arg384Trp) AND not provided

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Feb 1, 2024
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000235909.10

Allele description [Variation Report for NM_014874.4(MFN2):c.1150C>T (p.Arg384Trp)]

NM_014874.4(MFN2):c.1150C>T (p.Arg384Trp)

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.1150C>T (p.Arg384Trp)
HGVS:
  • NC_000001.11:g.12002093C>T
  • NG_007945.1:g.26913C>T
  • NM_001127660.2:c.1150C>T
  • NM_014874.4:c.1150C>TMANE SELECT
  • NP_001121132.1:p.Arg384Trp
  • NP_055689.1:p.Arg384Trp
  • NP_055689.1:p.Arg384Trp
  • LRG_255t1:c.1150C>T
  • LRG_255:g.26913C>T
  • LRG_255p1:p.Arg384Trp
  • NC_000001.10:g.12062150C>T
  • NM_014874.3:c.1150C>T
Protein change:
R384W
Links:
dbSNP: rs777353788
NCBI 1000 Genomes Browser:
rs777353788
Molecular consequence:
  • NM_001127660.2:c.1150C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014874.4:c.1150C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000293093GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Jan 21, 2020) 		germlineclinical testing

Citation Link,

SCV004699033CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)		Uncertain significance
(Feb 1, 2024) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000293093.10

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

Description

Observed in heterozygous state in a patient with axonal demyelinating sensory motor polyneuropathy in published literature (Auranen et al., 2013); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 23456260)

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

From CeGaT Center for Human Genetics Tuebingen, SCV004699033.8

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

MFN2: PM1, PM2

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 20, 2024