NC_012920.1(MT-ATP6):m.8950G>A AND Bicuspid aortic valve

Germline classification:: Likely 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:: RCV000766134.1

Allele description [Variation Report for NC_012920.1(MT-ATP6):m.8950G>A]

NC_012920.1(MT-ATP6):m.8950G>A

Gene:

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

Variant type:

single nucleotide variant

Genomic location:

Preferred name:

NC_012920.1(MT-ATP6):m.8950G>A

HGVS:

NC_012920.1:m.8950G>A

Links:

dbSNP: rs1556423574

NCBI 1000 Genomes Browser:

rs1556423574

Condition(s)

Name:: Bicuspid aortic valve
Identifiers:: MedGen: C0149630; Human Phenotype Ontology: HP:0001647

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000839531	Molecular Biology Laboratory, University of Basrah	no assertion criteria provided	Likely pathogenic	maternal	case-control

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000839531

Molecular Biology Laboratory, University of Basrah

no assertion criteria provided

Likely pathogenic

maternal

case-control

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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, SCV000839531.1

#	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 19, 2024

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