NM_014874.4(MFN2):c.842G>C (p.Cys281Ser) AND Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B

Clinical significance:Uncertain significance (Last evaluated: Jan 23, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001331980.1

Allele description [Variation Report for NM_014874.4(MFN2):c.842G>C (p.Cys281Ser)]

NM_014874.4(MFN2):c.842G>C (p.Cys281Ser)

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.842G>C (p.Cys281Ser)
Other names:
p.C281S:TGT>TCT
HGVS:
  • NC_000001.11:g.12001426G>C
  • NG_007945.1:g.26246G>C
  • NM_001127660.2:c.842G>C
  • NM_014874.3:c.842G>C
  • NM_014874.4:c.842G>CMANE SELECT
  • NP_001121132.1:p.Cys281Ser
  • NP_055689.1:p.Cys281Ser
  • NP_055689.1:p.Cys281Ser
  • LRG_255t1:c.842G>C
  • LRG_255:g.26246G>C
  • LRG_255p1:p.Cys281Ser
  • NC_000001.10:g.12061483G>C
Protein change:
C281S
Links:
dbSNP: rs147136530
NCBI 1000 Genomes Browser:
rs147136530
Molecular consequence:
  • NM_001127660.2:c.842G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014874.3:c.842G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014874.4:c.842G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B (CMT2A2B)
Identifiers:
MONDO: MONDO:0014906; MedGen: C4310725; OMIM: 617087

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001524158Baylor Geneticscriteria provided, single submitter
Uncertain significance
(Jan 23, 2020)
unknownclinical testing

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

Summary from all submissions

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

Citations

PubMed

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 Baylor Genetics, SCV001524158.1

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

Description

This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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

Last Updated: Nov 27, 2021

Support Center