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NM_014874.4(MFN2):c.275T>C (p.Leu92Pro) AND Charcot-Marie-Tooth disease

Germline classification:
Uncertain significance (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:
RCV000790024.1

Allele description [Variation Report for NM_014874.4(MFN2):c.275T>C (p.Leu92Pro)]

NM_014874.4(MFN2):c.275T>C (p.Leu92Pro)

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.275T>C (p.Leu92Pro)
HGVS:
  • NC_000001.11:g.11992654T>C
  • NG_007945.1:g.17474T>C
  • NM_001127660.2:c.275T>C
  • NM_014874.4:c.275T>CMANE SELECT
  • NP_001121132.1:p.Leu92Pro
  • NP_055689.1:p.Leu92Pro
  • NP_055689.1:p.Leu92Pro
  • LRG_255t1:c.275T>C
  • LRG_255:g.17474T>C
  • LRG_255p1:p.Leu92Pro
  • NC_000001.10:g.12052711T>C
  • NM_014874.3:c.275T>C
Protein change:
L92P
Links:
dbSNP: rs1569816285
NCBI 1000 Genomes Browser:
rs1569816285
Molecular consequence:
  • NM_001127660.2:c.275T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014874.4:c.275T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000929414Inherited Neuropathy Consortium
no assertion criteria provided
Uncertain significancegermlineliterature only

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2.

Verhoeven K, Claeys KG, Züchner S, Schröder JM, Weis J, Ceuterick C, Jordanova A, Nelis E, De Vriendt E, Van Hul M, Seeman P, Mazanec R, Saifi GM, Szigeti K, Mancias P, Butler IJ, Kochanski A, Ryniewicz B, De Bleecker J, Van den Bergh P, Verellen C, Van Coster R, et al.

Brain. 2006 Aug;129(Pt 8):2093-102. Epub 2006 May 19.

PubMed [citation]
PMID:
16714318

Details of each submission

From Inherited Neuropathy Consortium, SCV000929414.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024