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NM_014874.4(MFN2):c.707C>T (p.Thr236Met) AND Charcot-Marie-Tooth disease type 2A2

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 29, 2013
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000201150.3

Allele description [Variation Report for NM_014874.4(MFN2):c.707C>T (p.Thr236Met)]

NM_014874.4(MFN2):c.707C>T (p.Thr236Met)

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.707C>T (p.Thr236Met)
HGVS:
  • NC_000001.11:g.11998877C>T
  • NG_007945.1:g.23697C>T
  • NM_001127660.2:c.707C>T
  • NM_014874.4:c.707C>TMANE SELECT
  • NP_001121132.1:p.Thr236Met
  • NP_001121132.1:p.Thr236Met
  • NP_055689.1:p.Thr236Met
  • NP_055689.1:p.Thr236Met
  • LRG_255t1:c.707C>T
  • LRG_255:g.23697C>T
  • LRG_255p1:p.Thr236Met
  • NC_000001.10:g.12058934C>T
  • NM_001127660.1:c.707C>T
  • NM_014874.3:c.707C>T
Protein change:
T236M
Links:
dbSNP: rs773159585
NCBI 1000 Genomes Browser:
rs773159585
Molecular consequence:
  • NM_001127660.2:c.707C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014874.4:c.707C>T - 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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000255684Athena Diagnostics
criteria provided, single submitter

(Athena Diagnostics Criteria)		Pathogenic
(Jan 29, 2013) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Mitochondrial GTPase mitofusin 2 mutation in Charcot-Marie-Tooth neuropathy type 2A.

Kijima K, Numakura C, Izumino H, Umetsu K, Nezu A, Shiiki T, Ogawa M, Ishizaki Y, Kitamura T, Shozawa Y, Hayasaka K.

Hum Genet. 2005 Jan;116(1-2):23-7. Epub 2004 Nov 11.

PubMed [citation]
PMID:
15549395

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]
PMID:
26467025
PMCID:
PMC4737317

Details of each submission

From Athena Diagnostics, SCV000255684.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 20, 2024