NM_014874.4(MFN2):c.617C>T (p.Thr206Ile) AND Hereditary motor and sensory neuropathy with optic atrophy

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 1, 2006
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:: RCV000002368.5

Allele description [Variation Report for NM_014874.4(MFN2):c.617C>T (p.Thr206Ile)]

NM_014874.4(MFN2):c.617C>T (p.Thr206Ile)

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.617C>T (p.Thr206Ile)

HGVS:

NC_000001.11:g.11998787C>T
NG_007945.1:g.23607C>T
NM_001127660.2:c.617C>T
NM_014874.4:c.617C>TMANE SELECT
NP_001121132.1:p.Thr206Ile
NP_001121132.1:p.Thr206Ile
NP_055689.1:p.Thr206Ile
LRG_255:g.23607C>T
NC_000001.10:g.12058844C>T
NM_001127660.1:c.617C>T
O95140:p.Thr206Ile

Protein change:

T206I; THR206ILE

Links:

UniProtKB: O95140#VAR_029877; OMIM: 608507.0012; dbSNP: rs119103266

NCBI 1000 Genomes Browser:

rs119103266

Molecular consequence:

NM_001127660.2:c.617C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_014874.4:c.617C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Hereditary motor and sensory neuropathy with optic atrophy
Synonyms:: CHARCOT-MARIE-TOOTH DISEASE, TYPE 6; PERIPHERAL NEUROPATHY AND OPTIC ATROPHY
Identifiers:: MONDO: MONDO:0019551; MedGen: C0393807

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000022526	OMIM	no assertion criteria provided	Pathogenic (Feb 1, 2006)	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

SCV000022526

OMIM

no assertion criteria provided

Pathogenic
(Feb 1, 2006)

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	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2.

Züchner S, De Jonghe P, Jordanova A, Claeys KG, Guergueltcheva V, Cherninkova S, Hamilton SR, Van Stavern G, Krajewski KM, Stajich J, Tournev I, Verhoeven K, Langerhorst CT, de Visser M, Baas F, Bird T, Timmerman V, Shy M, Vance JM.

Ann Neurol. 2006 Feb;59(2):276-81.

PubMed [citation]

PMID:: 16437557

Details of each submission

From OMIM, SCV000022526.4

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

Description

In a father and son with hereditary motor and sensory neuropathy type VIA (HMSN6A; 601152), Zuchner et al. (2006) identified a heterozygous 617C-T transition in exon 7 of the MFN2 gene, resulting in a thr206-to-ile (T206I) substitution.

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

Last Updated: Jun 10, 2023

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