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NC_012920.1:m.1494C>T AND tobramycin response - Toxicity

Germline classification:
drug response (1 submission)
Last evaluated:
Jun 15, 2021
Review status:
3 stars out of maximum of 4 stars
reviewed by expert panel
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:
RCV001787386.9

Allele description [Variation Report for NC_012920.1:m.1494C>T]

NC_012920.1:m.1494C>T

Genes:
MT-TS1:mitochondrially encoded tRNA serine 1 (UCN) [Gene - OMIM - HGNC]
MT-RNR1:mitochondrially encoded 12S RNA [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Genomic location:
Preferred name:
NC_012920.1:m.1494C>T
Other names:
m.1494C>T; C1494T
HGVS:
NC_012920.1:m.1494C>T
Nucleotide change:
1494C-T
Links:
Medical Genetics Summaries: m.1494C>T; PharmGKB: 1444699308; PharmGKB: 1444699308PA164744372; PharmGKB: 1444699308PA449753; PharmGKB: 1444699308PA450137; PharmGKB: 1444699308PA450608; PharmGKB: 1444699308PA451512; PharmGKB: 1444699308PA451704; PharmGKB: 1444699308PA452167; OMIM: 561000.0004; dbSNP: rs267606619
NCBI 1000 Genomes Browser:
rs267606619

Condition(s)

Name:
tobramycin response - Toxicity
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002031237PharmGKB
reviewed by expert panel

(Pharmacogenomics knowledge for personalized medicine)		drug response
(Jun 15, 2021)
Condition: tobramycin response - Toxicity
Drug reported used for: Ototoxicity		germlinecuration

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

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedcuration

Citations

PubMed

Frequency of mitochondrial 12S ribosomal RNA variants in an adult cystic fibrosis population.

Conrad DJ, Stenbit AE, Zettner EM, Wick I, Eckhardt C, Hardiman G.

Pharmacogenet Genomics. 2008 Dec;18(12):1095-102. doi: 10.1097/FPC.0b013e328312b072.

PubMed [citation]
PMID:
18830133

Pharmacogenomics knowledge for personalized medicine.

Whirl-Carrillo M, McDonagh EM, Hebert JM, Gong L, Sangkuhl K, Thorn CF, Altman RB, Klein TE.

Clin Pharmacol Ther. 2012 Oct;92(4):414-7. doi: 10.1038/clpt.2012.96. Review.

PubMed [citation]
PMID:
22992668
PMCID:
PMC3660037

Details of each submission

From PharmGKB, SCV002031237.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (2)

Description

PharmGKB Level of Evidence 1A: Level 1A clinical annotations describe variant-drug combinations that have variant-specific prescribing guidance available in a current clinical guideline annotation or an FDA-approved drug label annotation. Annotations of drug labels or clinical guidelines must give prescribing guidance for specific variants (e.g. CYP2C9*3, HLA-B*57:01) or provide mapping from defined allele functions to diplotypes and phenotypes to be used as supporting evidence for a level 1A clinical annotation. Level 1A clinical annotations must also be supported by at least one publication in addition to a clinical guideline or drug label with variant-specific prescribing guidance.

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

Last Updated: Apr 20, 2024