m.1189T>C AND not specified

Germline classification:: Benign (1 submission)
Last evaluated:: May 1, 2014
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:: RCV000035029.5

Allele description [Variation Report for m.1189T>C]

m.1189T>C

Gene:

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

Variant type:

single nucleotide variant

Genomic location:

Preferred name:

m.1189T>C

HGVS:

NC_012920.1:m.1189T>C

Links:

dbSNP: rs28358571

NCBI 1000 Genomes Browser:

rs28358571

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
SCV000058669	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Benign (May 1, 2014)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 11406419, 9461455, 24033266

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000058669

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Benign
(May 1, 2014)

germline

clinical testing

PubMed (3)
[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	105	97	not provided	not provided	not provided	clinical testing

Citations

PubMed

Phylogenetic analysis of mitochondrial DNA in patients with an occipital stroke. Evaluation of mutations by using sequence data on the entire coding region.

Finnilä S, Hassinen IE, Majamaa K.

Mutat Res. 2001 Jun;458(1-2):31-9.

PubMed [citation]

PMID:: 11406419

Automating the identification of DNA variations using quality-based fluorescence re-sequencing: analysis of the human mitochondrial genome.

Rieder MJ, Taylor SL, Tobe VO, Nickerson DA.

Nucleic Acids Res. 1998 Feb 15;26(4):967-73.

PubMed [citation]

PMID:: 9461455
PMCID:: PMC147367

See all PubMed Citations (3)

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000058669.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	105	not provided	not provided	clinical testing	PubMed (3)

#	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		105	not provided	97	not provided

Last Updated: Dec 24, 2022

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