NC_012920.1:m.7028C>T

CA337097543

Gene: N/A

Condition: mitochondrial disease

Inheritance Mode: Mitochondrial inheritance

UUID: 40458303-e252-4846-bea8-434d53076051

HGVS expressions

NC_012920.1:m.7028C>T
J01415.2:m.7028C>T
ENST00000361624.2:n.1125C>T

Benign

• Met criteria codes: BA1 BP7

• Not Met criteria codes: BP4 PP3

Expert Panel

Mitochondrial Diseases VCEP

Criteria Specification Information

Evidence submitted by expert panel

Mitochondrial Diseases VCEP

The m.7028C>T (p. A375A) variant in MT-CO1 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 80.8% (BA1). This is a synonymous variant (BP7). In summary, this variant meets criteria to be classified as benign given its synonymous nature and high frequency in the general population. 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, BP7.

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 80.8%.
• BP7: This is a synonymous variant (BP7).

Not Met criteria codes

• BP4: HmtVar: NA (pending classification); APOGEE: no result (synonymous)
• PP3: HmtVar: NA (pending classification); APOGEE: no result (synonymous)

Approved on: 2022-03-24

Published on: 2022-03-24