NM_014874.3(MFN2):c.600-?_816+?del AND Charcot-Marie-Tooth disease, type 2

Clinical significance:Pathogenic (Last evaluated: Oct 10, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000195687.2

Allele description [Variation Report for NM_014874.3(MFN2):c.600-?_816+?del]

NM_014874.3(MFN2):c.600-?_816+?del

Gene:
MFN2:mitofusin 2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
1p36.22
Genomic location:
Preferred name:
NM_014874.3(MFN2):c.600-?_816+?del
HGVS:
  • NM_014874.3:c.600-?_816+?del
  • LRG_255t1:c.600-?_816+?del
  • NC_000001.10:g.(?_12058827)_(12059152_?)del

Condition(s)

Name:
Charcot-Marie-Tooth disease, type 2
Synonyms:
Charcot-Marie-Tooth, Type 2
Identifiers:
MedGen: C0270914

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000253919Invitaecriteria provided, single submitter
Pathogenic
(Oct 10, 2016)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2019 Jul 26;:.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV000253919.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This sequence change is a gross deletion of the genomic region encompassing exons 7-8 of the MFN2 gene. Deletion of MFN2 exons 7-8 has been reported in at least 5 unrelated families with recessive, severe, early-onset axonal neuropathy. In all cases affected individuals were found to be compound heterozygous for a pathogenic missense variant and the exon 7-8 deletion. None of the carrier parents were reported to have symptoms (PMID: 21715711, 26114802). Analysis of mRNA isolated from blood of 2 affected individuals with exons 7-8 deletion shows a shortened transcript that may be susceptible to either nonsense mediated decay or if translated it is expected to result in an out of frame MFN2 protein starting at codon 200 followed by premature truncation (PMID: 21715711). For these reasons, this variant has been classified as Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 2, 2019

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