Evidence Repository
The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]
Link to SEPIO compliant JSON-LD document
  • No ClinVar Id was directly found from the curated document
  • ClinVar Id was derived from the Allele Registry.
  • There was no gene found in the curated document received from the VCI/VCEP
  • Gene listed was thus derived from ClinVar and/or CAR
  • See Evidence submitted by expert panel for details.

Variant: NC_012920.1:m.8557G>A

CA414796680

692900 (ClinVar)

Gene: N/A
Condition: mitochondrial disease
Inheritance Mode: Mitochondrial inheritance
Link to MONDO
UUID: 01525dd6-279a-4cc4-8ed0-9d9186d0bf4f

HGVS expressions

NC_012920.1:m.8557G>A
J01415.2:m.8557G>A
ENST00000361851.1:n.192G>A
ENST00000361899.2:n.31G>A

Benign

Met criteria codes 1
BS1_Stand Alone
Not Met criteria codes 1
BP4

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specifications for this VCEP
Evidence submitted by expert panel
Mitochondrial Diseases VCEP
The m.8857G>A (p.A11T) variant in MT-ATP6 was reviewed by the Mitochondrial Disease Nuclear and Mitochondrial Variant Curation Expert Panel as part of the variant pilot for mitochondrial DNA variant specifications (McCormick et al., 2020; PMID: 32906214). This variant is seen at high frequencies across multiple haplogroups in the GenBank dataset (BS1_stand alone) including in haplogroup R7b (100% of individuals however only 9 sequences), H32 (89% of individuals however only 8/9 sequences), M30f (80% of individuals), M11d (67% of individuals), J1B (46% of individuals out of 390 sequences), X1c (40% of individuals), M52b (21% of individuals), D1g (10% of individuals), H7c (8% of individuals), and I2 (7% of individuals). If an affected individual is not a member of one of these haplogroups, further evaluation of the variant in that particular individual should be considered. In summary, this variant meets criteria to be classified as benign given high frequency in the general population across multiple haplogroups. This classification was approved by the NICHD U24 Mitochondrial Disease Variant Curation Expert Panel as of August 20, 2020. Mitochondrial DNA-specific ACMG/AMP criteria applied: BS1_stand alone.
Met criteria codes
BS1_Stand Alone
This variant is seen at high frequencies across multiple haplogroups in the GenBank dataset (BS1_stand alone) including in haplogroup R7b (100% of individuals however only 9 sequences), H32 (89% of individuals however only 8/9 sequences), M30f (80% of individuals), M11d (67% of individuals), J1B (46% of individuals out of 390 sequences), X1c (40% of individuals), M52b (21% of individuals), D1g (10% of individuals), H7c (8% of individuals), and I2 (7% of individuals). If an affected individual is not a member of one of these haplogroups, further evaluation of the variant in that particular individual should be considered. 0.9% frequency in gnomAD (queried 3/19/2021; including in 11% of individuals from haplogroup J). Frequency is higher in smaller haplogroups.
Not Met criteria codes
BP4
In silico predictor APOGEE score is 0.54 (predicted deleterious).
Approved on: 2022-03-24
Published on: 2022-03-24
The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. If you have questions about the information contained on this website, please see a health care professional.
¤ Powered by BCM's Genboree.