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NC_012920.1:m.8420_8421insATA

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: May 1, 2019)
Accession:
VCV000626321.1
Variation ID:
626321
Description:
3bp insertion
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NC_012920.1:m.8420_8421insATA

Allele ID
614653
Variant type
Insertion
Variant length
3 bp
Cytogenetic location
-
Genomic location
MT: 8418-8419 (GRCh38) GRCh38 UCSC
MT: 8418-8419 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_012920.1:m.8420_8421insATA YP_003024030.1:p.Thr19_Leu20insAsn
NC_012920.1:m.8420_8421insATA
NC_012920.1:m.8420_8421insATA YP_003024030.1:p.Thr19_Leu20insAsn
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_012920.1:8418:TA:TAATA
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1569484208
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided - RCV000768565.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
MT-ATP8 - - GRCh38 62 103

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(-)
no assertion criteria provided
Method: case-control
Bicuspid aortic valve
(Mitochondrial inheritance)
Allele origin: maternal
Molecular Biology Laboratory, University of Basrah
Accession: SCV000845753.1
Submitted: (May 01, 2019)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs1569484208...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated May 26, 2021