NM_014874.4(MFN2):c.179C>T (p.Thr60Met) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Mar 28, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000236416.1

Allele description [Variation Report for NM_014874.4(MFN2):c.179C>T (p.Thr60Met)]

NM_014874.4(MFN2):c.179C>T (p.Thr60Met)

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.179C>T (p.Thr60Met)
HGVS:
  • NC_000001.11:g.11992558C>T
  • NG_007945.1:g.17378C>T
  • NM_001127660.2:c.179C>T
  • NM_014874.3:c.179C>T
  • NM_014874.4:c.179C>TMANE SELECT
  • NP_001121132.1:p.Thr60Met
  • NP_055689.1:p.Thr60Met
  • NP_055689.1:p.Thr60Met
  • LRG_255t1:c.179C>T
  • LRG_255:g.17378C>T
  • LRG_255p1:p.Thr60Met
  • NC_000001.10:g.12052615C>T
Protein change:
T60M
Links:
dbSNP: rs138345244
NCBI 1000 Genomes Browser:
rs138345244
Molecular consequence:
  • NM_001127660.2:c.179C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014874.3:c.179C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014874.4:c.179C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000294093GeneDxcriteria provided, single submitter
Uncertain significance
(Mar 28, 2016)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000294093.10

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The T60M variant has notbeen published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge.The T60M variant was not observed with any significant frequency in approximately 6,500individuals of European and African American ancestry in the NHLBI Exome Sequencing Project butthe 1000 Genomes Project reports T60M was observed in 2/1008 (0.02%) alleles from individuals ofEast Asian background. This substitution occurs at a position that is conserved across species. TheT60M variant is a non-conservative amino acid substitution, which is likely to impact secondaryprotein structure as these residues differ in polarity, charge, size and/or other properties. However, insilico analysis is inconsistent in its predictions as to whether or not the variant is damaging to theprotein structure/function. Therefore, based on the currently available information, it is unclearwhether this variant is a pathogenic variant or a rare benign variant.

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

Last Updated: Nov 27, 2021

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