NC_012920.1(MT-ATP6):m.8553C>T AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 12, 2018
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:: RCV000757478.8

Allele description [Variation Report for NC_012920.1(MT-ATP6):m.8553C>T]

NC_012920.1(MT-ATP6):m.8553C>T

Genes:

MT-ATP6:mitochondrially encoded ATP synthase 6 [Gene - OMIM - HGNC]
MT-ATP8:mitochondrially encoded ATP synthase 8 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Genomic location:

Preferred name:

NC_012920.1(MT-ATP6):m.8553C>T

HGVS:

NC_012920.1:m.8553C>T
NC_012920.1:m.8553C>T

Links:

dbSNP: rs1569484219

NCBI 1000 Genomes Browser:

rs1569484219

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000885725	ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	criteria provided, single submitter (ARUP Molecular Germline Variant Investigation Process)	Uncertain significance (Jun 12, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000885725

ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process)

Uncertain significance
(Jun 12, 2018)

germline

clinical testing

Citation Link

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

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV000885725.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The m.8553C>T variant affects two mitochondrially-encoded genes; MT-ATP8 (c.188C>T; p.Ser63Leu) and MT-ATP6 (c.27C>T; p. Phe9Phe), and has not been associated with any disease. This variant affects a weakly conserved nucleotide, but is rare in the general population (identified in nine individuals in the MITOMAP database; 0.02% population frequency) and is not associated with any particular haplogroup. Therefore, due to limited information, the clinical significance of the m.8553C>T variant is uncertain at this time.

#	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 19, 2024

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