NC_012920.1(MT-CYB):m.1106C>T AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 13, 2018
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:: RCV000825653.4

Allele description [Variation Report for NC_012920.1(MT-CYB):m.1106C>T]

NC_012920.1(MT-CYB):m.1106C>T

Gene:

MT-RNR1:mitochondrially encoded 12S RNA [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Genomic location:

Preferred name:

NC_012920.1(MT-CYB):m.1106C>T

HGVS:

NC_012920.1:m.1106C>T

Links:

dbSNP: rs1603218523

NCBI 1000 Genomes Browser:

rs1603218523

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000967024	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Uncertain significance (Feb 13, 2018)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 18790089, 24033266

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000967024

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Uncertain significance
(Feb 13, 2018)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	1	1	not provided	not provided	not provided	clinical testing

Citations

PubMed

Mutation analysis of mitochondrial DNA 12SrRNA and tRNASer(UCN) genes in non-syndromic hearing loss patients.

Konings A, Van Camp G, Goethals A, Van Eyken E, Vandevelde A, Ben Azza J, Peeters N, Wuyts W, Smeets H, Van Laer L.

Mitochondrion. 2008 Dec;8(5-6):377-82. doi: 10.1016/j.mito.2008.08.001. Epub 2008 Aug 26.

PubMed [citation]

PMID:: 18790089

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]

PMID:: 24033266
PMCID:: PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000967024.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (2)

Description

The m.1106C>T variant in MTRNR1, the mitochondrial gene encoding the 12S rRNA, h as been previously identified in one individual with hearing loss (Koning 2008). This variant has been identified in 0.002% of haplotypes (http://www.mitomap.or g). However, this frequency is not high enough to rule out a pathogenic role. Th is region of mitochondrial DNA is not evolutionarily conserved (Lu 2010) and thi s variant is part of known polymorphisms associated with mitochondrial haplogrou ps (Tanaka 2004, Lu 2010). In addition, the cytosine (C) nucleotide at position m.1106 is not conserved in mammals, suggesting that a change at this position ma y be tolerated. However, this information is not predictive enough to rule out p athogenicity. In summary, the clinical significance of the m.1106C>T variant is uncertain. ACMG/AMP Criteria applied: BP4.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		1	not provided	1	not provided

Last Updated: Dec 24, 2022

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