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NM_014874.4(MFN2):c.827A>G (p.Gln276Arg) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Apr 11, 2023
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:
RCV003482223.2

Allele description [Variation Report for NM_014874.4(MFN2):c.827A>G (p.Gln276Arg)]

NM_014874.4(MFN2):c.827A>G (p.Gln276Arg)

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.827A>G (p.Gln276Arg)
HGVS:
  • NC_000001.11:g.12001411A>G
  • NG_007945.1:g.26231A>G
  • NM_001127660.2:c.827A>G
  • NM_014874.4:c.827A>GMANE SELECT
  • NP_001121132.1:p.Gln276Arg
  • NP_001121132.1:p.Gln276Arg
  • NP_055689.1:p.Gln276Arg
  • LRG_255t1:c.827A>G
  • LRG_255:g.26231A>G
  • NC_000001.10:g.12061468A>G
  • NM_001127660.1:c.827A>G
  • NM_014874.3:c.827A>G
  • O95140:p.Gln276Arg
Protein change:
Q276R; GLN276ARG
Links:
UniProtKB: O95140#VAR_029878; OMIM: 608507.0010; dbSNP: rs119103264
NCBI 1000 Genomes Browser:
rs119103264
Molecular consequence:
  • NM_001127660.2:c.827A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014874.4:c.827A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004229549Athena Diagnostics
criteria provided, single submitter

(Athena Diagnostics Criteria)		Likely pathogenic
(Apr 11, 2023) 		unknownclinical testing

PubMed (9)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Whole exome sequencing reveals a broader variant spectrum of Charcot-Marie-Tooth disease type 2.

Lin S, Xu LQ, Xu GR, Guo LL, Lin BJ, Chen WJ, Wang N, Lin Y, He J.

Neurogenetics. 2020 Apr;21(2):79-86. doi: 10.1007/s10048-019-00591-4. Epub 2019 Dec 12.

PubMed [citation]
PMID:
31832804

Genetic spectrum and clinical profiles in a southeast Chinese cohort of Charcot-Marie-Tooth disease.

Chen CX, Dong HL, Wei Q, Li LX, Yu H, Li JQ, Liu GL, Li HF, Bai G, Ma H, Wu ZY.

Clin Genet. 2019 Nov;96(5):439-448. doi: 10.1111/cge.13616. Epub 2019 Aug 8.

PubMed [citation]
PMID:
31372974
See all PubMed Citations (9)

Details of each submission

From Athena Diagnostics, SCV004229549.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (9)

Description

This variant has been identified in multiple unrelated individuals with clinical features associated with autosomal dominant forms of hereditary motor and sensory neuropathy (HMSN) and Charcot-Marie-Tooth disease (CMT). This variant has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). The variant is located in a region that is considered important for protein function and/or structure.

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

Last Updated: May 7, 2024