NM_014874.4(MFN2):c.1118G>A (p.Arg373Gln) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 27, 2019
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV002438491.2

Allele description [Variation Report for NM_014874.4(MFN2):c.1118G>A (p.Arg373Gln)]

NM_014874.4(MFN2):c.1118G>A (p.Arg373Gln)

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.1118G>A (p.Arg373Gln)

HGVS:

NC_000001.11:g.12002061G>A
NG_007945.1:g.26881G>A
NM_001127660.2:c.1118G>A
NM_014874.4:c.1118G>AMANE SELECT
NP_001121132.1:p.Arg373Gln
NP_055689.1:p.Arg373Gln
NP_055689.1:p.Arg373Gln
LRG_255t1:c.1118G>A
LRG_255:g.26881G>A
LRG_255p1:p.Arg373Gln
NC_000001.10:g.12062118G>A
NM_014874.3:c.1118G>A

Protein change:

R373Q

Links:

dbSNP: rs142042485

NCBI 1000 Genomes Browser:

rs142042485

Molecular consequence:

NM_001127660.2:c.1118G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_014874.4:c.1118G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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LOC127413050 [Myxocyprinus asiaticus]
LOC127413050 [Myxocyprinus asiaticus]
Gene ID:127413050

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002752712	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Sep 27, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002752712

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Sep 27, 2019)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV002752712.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The p.R373Q variant (also known as c.1118G>A), located in coding exon 9 of the MFN2 gene, results from a G to A substitution at nucleotide position 1118. The arginine at codon 373 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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