NM_014874.4(MFN2):c.1061T>C (p.Val354Ala) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 30, 2016
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:: RCV000413177.1

Allele description [Variation Report for NM_014874.4(MFN2):c.1061T>C (p.Val354Ala)]

NM_014874.4(MFN2):c.1061T>C (p.Val354Ala)

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.1061T>C (p.Val354Ala)

HGVS:

NC_000001.11:g.12002004T>C
NG_007945.1:g.26824T>C
NM_001127660.2:c.1061T>C
NM_014874.4:c.1061T>CMANE SELECT
NP_001121132.1:p.Val354Ala
NP_055689.1:p.Val354Ala
NP_055689.1:p.Val354Ala
LRG_255t1:c.1061T>C
LRG_255:g.26824T>C
LRG_255p1:p.Val354Ala
NC_000001.10:g.12062061T>C
NM_014874.3:c.1061T>C

Protein change:

V354A

Links:

dbSNP: rs1057518235

NCBI 1000 Genomes Browser:

rs1057518235

Molecular consequence:

NM_001127660.2:c.1061T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_014874.4:c.1061T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000491692	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Uncertain significance (Nov 30, 2016)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000491692

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Uncertain significance
(Nov 30, 2016)

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000491692.1

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

Description

The V354A variant in the MFN2 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. This variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The V354A variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret V354A as a variant of uncertain significance.

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

Last Updated: Sep 29, 2024

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