NM_014874.4(MFN2):c.227T>C (p.Leu76Pro) AND Charcot-Marie-Tooth disease type 2A2

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 1, 2004
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:: RCV000002358.4

Allele description [Variation Report for NM_014874.4(MFN2):c.227T>C (p.Leu76Pro)]

NM_014874.4(MFN2):c.227T>C (p.Leu76Pro)

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.227T>C (p.Leu76Pro)

Other names:

p.L76P:CTG>CCG

HGVS:

NC_000001.11:g.11992606T>C
NG_007945.1:g.17426T>C
NM_001127660.2:c.227T>C
NM_014874.4:c.227T>CMANE SELECT
NP_001121132.1:p.Leu76Pro
NP_055689.1:p.Leu76Pro
NP_055689.1:p.Leu76Pro
LRG_255t1:c.227T>C
LRG_255:g.17426T>C
LRG_255p1:p.Leu76Pro
NC_000001.10:g.12052663T>C
NM_014874.3:c.227T>C
O95140:p.Leu76Pro

Protein change:

L76P; LEU76PRO

Links:

UniProtKB: O95140#VAR_018608; OMIM: 608507.0003; dbSNP: rs28940293

NCBI 1000 Genomes Browser:

rs28940293

Molecular consequence:

NM_001127660.2:c.227T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_014874.4:c.227T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Charcot-Marie-Tooth disease type 2A2
Synonyms:: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2; CHARCOT-MARIE-TOOTH DISEASE, NEURONAL, TYPE 2A2; HEREDITARY MOTOR AND SENSORY NEUROPATHY IIA2; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0012231; MedGen: C4721887; Orphanet: 99947; OMIM: 609260

Recent activity

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membrane-associated phosphatidylinositol transfer protein 1 isoform X2 [Homo sap...
membrane-associated phosphatidylinositol transfer protein 1 isoform X2 [Homo sapiens]
gi|2462528935|ref|XP_054226567.1|

Protein
PREDICTED: Homo sapiens phosphatidylinositol transfer protein membrane associate...
PREDICTED: Homo sapiens phosphatidylinositol transfer protein membrane associated 1 (PITPNM1), transcript variant X4, mRNA
gi|2462528928|ref|XM_054370589.1|

Nucleotide
PREDICTED: Homo sapiens phosphatidylinositol transfer protein membrane associate...
PREDICTED: Homo sapiens phosphatidylinositol transfer protein membrane associated 1 (PITPNM1), transcript variant X9, mRNA
gi|2217285670|ref|XM_047427911.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000022516	OMIM	no assertion criteria provided	Pathogenic (May 1, 2004)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 10732809, 15064763

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000022516

OMIM

no assertion criteria provided

Pathogenic
(May 1, 2004)

germline

literature only

PubMed (2)
[See all records that cite these PMIDs]

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

Confirmation of a second locus for CMT2 and evidence for additional genetic heterogeneity.

Pericak-Vance MA, Speer MC, Lennon F, West SG, Menold MM, Stajich JM, Wolpert CM, Slotterbeck BD, Saito M, Tim RW, Rozear MP, Middleton LT, Tsuji S, Vance JM.

Neurogenetics. 1997 Sep;1(2):89-93.

PubMed [citation]

PMID:: 10732809

Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A.

Züchner S, Mersiyanova IV, Muglia M, Bissar-Tadmouri N, Rochelle J, Dadali EL, Zappia M, Nelis E, Patitucci A, Senderek J, Parman Y, Evgrafov O, Jonghe PD, Takahashi Y, Tsuji S, Pericak-Vance MA, Quattrone A, Battaloglu E, Polyakov AV, Timmerman V, Schröder JM, Vance JM.

Nat Genet. 2004 May;36(5):449-51. Epub 2004 Apr 4. No abstract available. Erratum in: Nat Genet. 2004 Jun;36(6):660. Battologlu E [corrected to Battaloglu E].

PubMed [citation]

PMID:: 15064763

Details of each submission

From OMIM, SCV000022516.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

Description

In affected members of a family with Charcot-Marie-Tooth disease-2A2A (CMT2A2A; 609260) originally reported by Pericak-Vance et al. (1997), Zuchner et al. (2004) identified a heterozygous 227T-C transition in the MFN2 gene, resulting in a leu76-to-pro (L76P) substitution. Age at disease onset ranged from 7 to 44 years.

#	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: Sep 29, 2024

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