NM_014874.4(MFN2):c.2037C>G (p.Tyr679Ter) AND Charcot-Marie-Tooth disease

Germline classification:: Pathogenic (1 submission)
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria 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:: RCV000789075.1

Allele description [Variation Report for NM_014874.4(MFN2):c.2037C>G (p.Tyr679Ter)]

NM_014874.4(MFN2):c.2037C>G (p.Tyr679Ter)

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.2037C>G (p.Tyr679Ter)

HGVS:

NC_000001.11:g.12007217C>G
NG_007945.1:g.32037C>G
NM_001127660.2:c.2037C>G
NM_014874.4:c.2037C>GMANE SELECT
NP_001121132.1:p.Tyr679Ter
NP_055689.1:p.Tyr679Ter
NP_055689.1:p.Tyr679Ter
LRG_255t1:c.2037C>G
LRG_255:g.32037C>G
LRG_255p1:p.Tyr679Ter
NC_000001.10:g.12067274C>G
NM_014874.3:c.2037C>G

Protein change:

Y679*

Links:

dbSNP: rs1569871830

NCBI 1000 Genomes Browser:

rs1569871830

Molecular consequence:

NM_001127660.2:c.2037C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_014874.4:c.2037C>G - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Charcot-Marie-Tooth disease
Synonyms:: Charcot-Marie-Tooth Neuropathy
Identifiers:: MONDO: MONDO:0015626; MedGen: C0007959; OMIM: PS118220

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000928424	Inherited Neuropathy Consortium	no assertion criteria provided	Pathogenic	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000928424

Inherited Neuropathy Consortium

no assertion criteria provided

Pathogenic

germline

literature only

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

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	literature only

Citations

PubMed

The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy.

DiVincenzo C, Elzinga CD, Medeiros AC, Karbassi I, Jones JR, Evans MC, Braastad CD, Bishop CM, Jaremko M, Wang Z, Liaquat K, Hoffman CA, York MD, Batish SD, Lupski JR, Higgins JJ.

Mol Genet Genomic Med. 2014 Nov;2(6):522-9. doi: 10.1002/mgg3.106. Epub 2014 Aug 21.

PubMed [citation]

PMID:: 25614874
PMCID:: PMC4303222

Details of each submission

From Inherited Neuropathy Consortium, SCV000928424.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

#	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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