NC_012920.1(MT-CYB):m.1047A>G AND not specified

Germline classification:: Likely benign (1 submission)
Last evaluated:: Nov 22, 2017
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:: RCV000600321.4

Allele description [Variation Report for NC_012920.1(MT-CYB):m.1047A>G]

NC_012920.1(MT-CYB):m.1047A>G

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.1047A>G

HGVS:

NC_012920.1:m.1047A>G

Links:

dbSNP: rs1556422506

NCBI 1000 Genomes Browser:

rs1556422506

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000732030	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Likely benign (Nov 22, 2017)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 20353758, 8769114, 19371214, 24033266

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000732030

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Likely benign
(Nov 22, 2017)

germline

clinical testing

PubMed (4)
[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	1	1	not provided	not provided	not provided	clinical testing

Citations

PubMed

Mutation analysis of mitochondrial 12S rRNA gene in Polish patients with non-syndromic and aminoglycoside-induced hearing loss.

Rydzanicz M, Wróbel M, Pollak A, Gawecki W, Brauze D, Kostrzewska-Poczekaj M, Wojsyk-Banaszak I, Lechowicz U, Mueller-Malesińska M, Ołdak M, Płoski R, Skarzyński H, Szyfter K.

Biochem Biophys Res Commun. 2010 Apr 23;395(1):116-21. doi: 10.1016/j.bbrc.2010.03.149. Epub 2010 Mar 28.

PubMed [citation]

PMID:: 20353758

A novel mutation in the mitochondrial tRNA(Thr) gene associated with a mitochondrial encephalomyopathy.

Nishino I, Seki A, Maegaki Y, Takeshita K, Horai S, Nonaka I, Goto Y.

Biochem Biophys Res Commun. 1996 Aug 5;225(1):180-5.

PubMed [citation]

PMID:: 8769114

See all PubMed Citations (4)

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000732030.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (4)

Description

m.1047A>G in MTRNR1: Although this variant has been previously reported in 1 ind ividual with mitochondrial encephalomyopathy and 1 individual with hearing loss (Nishino 1996, Rydzanicz 2010), the variant is not expected to have clinical sig nificance because it has been reported at high frequency in several haplogroups, including 27% (3/11) of M55, which is of East Asian origin, and 14% (26/188) of E1a, which is of Melanesian origin (http://www.mitomap.org).

#	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		1	not provided	1	not provided

Last Updated: Dec 24, 2022

ClinVar

Relating variation to medicine