NM_014874.4(MFN2):c.2146G>A (p.Ala716Thr) AND Charcot-Marie-Tooth disease

Clinical significance:Likely pathogenic

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000790008.2

Allele description [Variation Report for NM_014874.4(MFN2):c.2146G>A (p.Ala716Thr)]

NM_014874.4(MFN2):c.2146G>A (p.Ala716Thr)

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.2146G>A (p.Ala716Thr)
Other names:
p.A716T:GCC>ACC
HGVS:
  • NC_000001.11:g.12009668G>A
  • NG_007945.1:g.34488G>A
  • NM_001127660.2:c.2146G>A
  • NM_014874.4:c.2146G>AMANE SELECT
  • NP_001121132.1:p.Ala716Thr
  • NP_055689.1:p.Ala716Thr
  • NP_055689.1:p.Ala716Thr
  • LRG_255t1:c.2146G>A
  • LRG_255:g.34488G>A
  • LRG_255p1:p.Ala716Thr
  • NC_000001.10:g.12069725G>A
  • NM_014874.3:c.2146G>A
Protein change:
A716T
Links:
dbSNP: rs144860227
NCBI 1000 Genomes Browser:
rs144860227
Molecular consequence:
  • NM_001127660.2:c.2146G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014874.4:c.2146G>A - 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
SCV000929398Inherited Neuropathy Consortiumno assertion criteria providedUncertain significancegermlineliterature only

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

SCV001336793Molecular Genetics Laboratory,London Health Sciences Centrecriteria provided, single submitter
Likely pathogenicgermlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing, literature only

Citations

PubMed

MFN2 point mutations occur in 3.4% of Charcot-Marie-Tooth families. An investigation of 232 Norwegian CMT families.

Braathen GJ, Sand JC, Lobato A, Høyer H, Russell MB.

BMC Med Genet. 2010 Mar 29;11:48. doi: 10.1186/1471-2350-11-48.

PubMed [citation]
PMID:
20350294
PMCID:
PMC2859816

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Inherited Neuropathy Consortium, SCV000929398.1

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

From Molecular Genetics Laboratory,London Health Sciences Centre, SCV001336793.1

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

Last Updated: Dec 4, 2021

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