NC_012920.1:m.8431_8432insCCA AND Abnormal aortic valve physiology

Germline classification:: Pathogenic (1 submission)
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000768655.1

Allele description [Variation Report for NC_012920.1:m.8431_8432insCCA]

NC_012920.1:m.8431_8432insCCA

Gene:

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

Variant type:

Insertion

Genomic location:

Preferred name:

NC_012920.1:m.8431_8432insCCA

HGVS:

NC_012920.1:m.8431_8432insCCA

Links:

dbSNP: rs1569484209

NCBI 1000 Genomes Browser:

rs1569484209

Condition(s)

Name:: Abnormal aortic valve physiology
Identifiers:: MedGen: C4703464; Human Phenotype Ontology: HP:0031652

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000845762	Molecular Biology Laboratory, University of Basrah	no assertion criteria provided	Pathogenic	maternal	case-control

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000845762

Molecular Biology Laboratory, University of Basrah

no assertion criteria provided

Pathogenic

maternal

case-control

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
Caucasian	maternal	unknown	not provided	not provided	not provided	not provided	not provided	case-control

Details of each submission

From Molecular Biology Laboratory, University of Basrah, SCV000845762.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Caucasian	not provided	not provided	not provided	case-control	not provided

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

Last Updated: May 24, 2022

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