The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]
  • There was no gene found in the curated document received from the VCI/VCEP
  • Gene listed was thus derived from ClinVar and/or CAR
  • The variant label for this record ("m.15326A>G") does not appear to be in HGVS format

  • See Evidence submitted by expert panel for details.

Variant: m.15326A>G

CA269989

140592 (ClinVar)

Gene: MT-CYB
Condition: mitochondrial disease
Inheritance Mode: Mitochondrial inheritance
UUID: 6b61c78a-7eec-4bcc-93a2-b497b62f93c7

HGVS expressions

NC_012920.1:m.15326A>G
J01415.2:m.15326A>G
ENST00000361789.2:n.580A>G

Benign

Met criteria codes 2
BA1 BP4

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specifications for this VCEP
Evidence submitted by expert panel
Mitochondrial Diseases VCEP
The m.15326A>G (p.T194A) variant in MT-CYB 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 in numerous haplogroups and the overall allele frequency in GenBank database (per Mitomap; queried 6/29/2020) is 98.7% (BA1). Additionally, the computational predictor APOGEE gives a consensus rating of neutral with a low pathogenicity predictor score, 0.4 (Min=0, Max=1), evidence that does not predict a damaging effect on gene function (BP4). In summary, this variant meets criteria to be classified as benign. 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: BA1, BP4.
Met criteria codes
BA1
This variant is seen at high frequencies in numerous haplogroups and the overall allele frequency in GenBank database (per Mitomap; queried 6/29/2020) is 98.7% (BA1).
BP4
The computational predictor APOGEE gives a consensus rating of neutral with a low pathogenicity predictor score, 0.4 (Min=0, Max=1), evidence that does not predict a damaging effect on gene function (BP4).
Approved on: 2022-03-24
Published on: 2022-03-24
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