NC_012920.1(MT-CYB):m.1243T>C AND not specified

Germline classification:: Benign (1 submission)
Last evaluated:: Mar 28, 2008
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:: RCV000035037.5

Allele description [Variation Report for NC_012920.1(MT-CYB):m.1243T>C]

NC_012920.1(MT-CYB):m.1243T>C

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.1243T>C

HGVS:

NC_012920.1:m.1243T>C

Links:

dbSNP: rs28358572

NCBI 1000 Genomes Browser:

rs28358572

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
SCV000058677	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Benign (Mar 28, 2008)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 11245424, 24033266

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000058677

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Benign
(Mar 28, 2008)

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	28	27	not provided	not provided	not provided	clinical testing

Citations

PubMed

Detection of mitochondrial DNA mutations in pancreatic cancer offers a "mass"-ive advantage over detection of nuclear DNA mutations.

Jones JB, Song JJ, Hempen PM, Parmigiani G, Hruban RH, Kern SE.

Cancer Res. 2001 Feb 15;61(4):1299-304.

PubMed [citation]

PMID:: 11245424

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, SCV000058677.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	28	not provided	not provided	clinical testing	PubMed (2)

Description

m.1243T>C in MT-RNR1: This variant is not expected to have clinical significance because it has been identified in 2.15% (57/2647) individuals, mainly of Europe an decent (also San, African, Asian, and Indian) (MitoMap: http://www.mitomap.or g; mtDB: http://www.mtdb.igp.uu.se/index.html). Since the rate of hearing loss i s less than 2.15% in the general population we have classified this variant as b enign.

#	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		28	not provided	27	not provided

Last Updated: Sep 29, 2024

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