NC_012920.1(MT-CYB):m.813A>G AND not provided

Germline classification:: Benign (1 submission)
Last evaluated:: Feb 18, 2019
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:: RCV000992382.2

Allele description [Variation Report for NC_012920.1(MT-CYB):m.813A>G]

NC_012920.1(MT-CYB):m.813A>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.813A>G

HGVS:

NC_012920.1:m.813A>G

Links:

dbSNP: rs878985110

NCBI 1000 Genomes Browser:

rs878985110

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Homo sapiens cDNA FLJ42078 fis, clone SYNOV2020085
Homo sapiens cDNA FLJ42078 fis, clone SYNOV2020085
gi|34529770|dbj|AK124072.1|

Nucleotide
Sr_rh_Cy01
Sr_rh_Cy01

biosample
229474[uid] AND (alive[prop]) (1)
Gene
Fhdc1 FH2 domain containing 1 [Mus musculus]
Fhdc1 FH2 domain containing 1 [Mus musculus]
Gene ID:229474

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001144611	Athena Diagnostics	criteria provided, single submitter (Athena Diagnostics Criteria)	Benign (Feb 18, 2019)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 23969527, 26467025

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001144611

Athena Diagnostics

criteria provided, single submitter

(Athena Diagnostics Criteria)

Benign
(Feb 18, 2019)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Association between idiopathic hearing loss and mitochondrial DNA mutations: a study on 169 hearing-impaired subjects.

Guaran V, Astolfi L, Castiglione A, Simoni E, Olivetto E, Galasso M, Trevisi P, Busi M, Volinia S, Martini A.

Int J Mol Med. 2013 Oct;32(4):785-94. doi: 10.3892/ijmm.2013.1470. Epub 2013 Aug 16.

PubMed [citation]

PMID:: 23969527
PMCID:: PMC3812239

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]

PMID:: 26467025
PMCID:: PMC4737317

Details of each submission

From Athena Diagnostics, SCV001144611.1

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 7, 2024

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