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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:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000967024Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Uncertain significance
(Feb 13, 2018) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided11not providednot providednot providedclinical 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

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical 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.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided1not provided1not provided

Last Updated: Dec 24, 2022