m.958_960dupCCC AND not specified

Clinical significance:Likely benign (Last evaluated: Aug 14, 2012)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000035058.2

Allele description [Variation Report for m.958_960dupCCC]

m.958_960dupCCC

Gene:
MT-RNR1:mitochondrially encoded 12S RNA [Gene - OMIM - HGNC]
Variant type:
Duplication
Genomic location:
Preferred name:
m.958_960dupCCC
Other names:
NC_012920.1:m.960_961insCCC
HGVS:
NC_012920.1:m.958_960dupCCC
Links:
dbSNP: 111033185
NCBI 1000 Genomes Browser:
rs111033185
Observations:
4

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000058698Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicinecriteria provided, single submitter
Likely benign
(Aug 14, 2012)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided44not providednot providednot providedclinical testing

Citations

PubMed

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,Partners HealthCare Personalized Medicine, SCV000058698.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided4not providednot providedclinical testing PubMed (1)

Description

m.958_960dupCCC in MTRNR1: This variant leads to the insertion of three cytosine nucleotides after position 960. Variable numbers of inserted Cs in this region have been putatively implicated in aminoglycoside-induced hearing loss (Casano 1999, Yoshida 2002, Ronghua 2004). However, subsequent studies have revealed that these variants are present in similar frequencies among HL patients and controls and they are part of a common Asian haplogroup (Yao 2006, Bae 2008, Tanaka 2010, Shen 2011). Moreover, this region of mitochondrial DNA is not evolutionarily conserved and its function is not well defined (Guan 2011). In summary, there is insufficient data to support a disease-associated role or risk for ototoxicity and the population frequency of the variant suggests that it is most likely benign.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided4not provided4not provided

Last Updated: Aug 16, 2017