NM_014874.4(MFN2):c.1126A>G (p.Met376Val) AND Hereditary motor and sensory neuropathy with optic atrophy

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:: RCV001542541.10

Allele description [Variation Report for NM_014874.4(MFN2):c.1126A>G (p.Met376Val)]

NM_014874.4(MFN2):c.1126A>G (p.Met376Val)

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.1126A>G (p.Met376Val)

HGVS:

NC_000001.11:g.12002069A>G
NG_007945.1:g.26889A>G
NM_001127660.2:c.1126A>G
NM_014874.4:c.1126A>GMANE SELECT
NP_001121132.1:p.Met376Val
NP_055689.1:p.Met376Val
NP_055689.1:p.Met376Val
LRG_255t1:c.1126A>G
LRG_255:g.26889A>G
LRG_255p1:p.Met376Val
NC_000001.10:g.12062126A>G
NM_014874.3:c.1126A>G

Protein change:

M376V

Links:

dbSNP: rs863224967

NCBI 1000 Genomes Browser:

rs863224967

Molecular consequence:

NM_001127660.2:c.1126A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_014874.4:c.1126A>G - 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
SCV001759977	Genomics England Pilot Project, Genomics England	no assertion criteria provided (ACGS Guidelines, 2016)	Pathogenic	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001759977

Genomics England Pilot Project, Genomics England

no assertion criteria provided

(ACGS Guidelines, 2016)

Pathogenic

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 Genomics England Pilot Project, Genomics England, SCV001759977.1

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

#	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: Nov 3, 2024

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