NM_014874.4(MFN2):c.1150C>T (p.Arg384Trp) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 2, 2022
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:: RCV002518436.3

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]

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003723857	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Dec 2, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003723857

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Dec 2, 2022)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

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

Citations

PubMed

Dominant GDAP1 founder mutation is a common cause of axonal Charcot-Marie-Tooth disease in Finland.

Auranen M, Ylikallio E, Toppila J, Somer M, Kiuru-Enari S, Tyynismaa H.

Neurogenetics. 2013 May;14(2):123-32. doi: 10.1007/s10048-013-0358-9. Epub 2013 Mar 3.

PubMed [citation]

PMID:: 23456260

Details of each submission

From Ambry Genetics, SCV003723857.2

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

Description

The c.1150C>T (p.R384W) alteration is located in exon 11 (coding exon 9) of the MFN2 gene. This alteration results from a C to T substitution at nucleotide position 1150, causing the arginine (R) at amino acid position 384 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, 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: Oct 20, 2024

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