NC_012920.1(MT-CYB):m.1284T>C AND not specified

Germline classification:: Benign (1 submission)
Last evaluated:: Aug 16, 2016
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:: RCV000610516.4

Allele description [Variation Report for NC_012920.1(MT-CYB):m.1284T>C]

NC_012920.1(MT-CYB):m.1284T>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.1284T>C

HGVS:

NC_012920.1:m.1284T>C

Links:

dbSNP: rs1556422516

NCBI 1000 Genomes Browser:

rs1556422516

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
SCV000712446	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Benign (Aug 16, 2016)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 23463613, 24033266

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000712446

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Benign
(Aug 16, 2016)

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	3	3	not provided	not provided	not provided	clinical testing

Citations

PubMed

Transition to next generation analysis of the whole mitochondrial genome: a summary of molecular defects.

Tang S, Wang J, Zhang VW, Li FY, Landsverk M, Cui H, Truong CK, Wang G, Chen LC, Graham B, Scaglia F, Schmitt ES, Craigen WJ, Wong LJ.

Hum Mutat. 2013 Jun;34(6):882-93. doi: 10.1002/humu.22307. Epub 2013 Apr 2.

PubMed [citation]

PMID:: 23463613

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, SCV000712446.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	3	not provided	not provided	clinical testing	PubMed (2)

Description

m.1284T>C in MTRNR1: This variant is not expected to have clinical significance because it has been identified at high frequency in several haplogroups, includi ng 4.9% (12/310) of the H5a European haplogroup (http://www.mitomap.org/). In a ddition, this variant has been identified in two asymptomatic mothers of individ uals with suspected mitochondrial disease (Tang 2013).

#	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		3	not provided	3	not provided

Last Updated: Dec 24, 2022

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