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NM_014874.4(MFN2):c.2162T>C (p.Ile721Thr) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 12, 2022
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:
RCV002424610.2

Allele description [Variation Report for NM_014874.4(MFN2):c.2162T>C (p.Ile721Thr)]

NM_014874.4(MFN2):c.2162T>C (p.Ile721Thr)

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.2162T>C (p.Ile721Thr)
HGVS:
  • NC_000001.11:g.12009684T>C
  • NG_007945.1:g.34504T>C
  • NM_001127660.2:c.2162T>C
  • NM_014874.4:c.2162T>CMANE SELECT
  • NP_001121132.1:p.Ile721Thr
  • NP_055689.1:p.Ile721Thr
  • NP_055689.1:p.Ile721Thr
  • LRG_255t1:c.2162T>C
  • LRG_255:g.34504T>C
  • LRG_255p1:p.Ile721Thr
  • NC_000001.10:g.12069741T>C
  • NM_014874.3:c.2162T>C
Protein change:
I721T
Links:
dbSNP: rs150946795
NCBI 1000 Genomes Browser:
rs150946795
Molecular consequence:
  • NM_001127660.2:c.2162T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014874.4:c.2162T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002727345Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(May 12, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002727345.2

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

Description

The p.I721T variant (also known as c.2162T>C), located in coding exon 16 of the MFN2 gene, results from a T to C substitution at nucleotide position 2162. The isoleucine at codon 721 is replaced by threonine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 29, 2024