Evidence Repository - Clinical Genome Resources

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

Variant: NC_012920.1:m.4769A>G

CA337096951

441150 (ClinVar)

Gene: MT-ND2

Condition: mitochondrial disease

Inheritance Mode: Mitochondrial inheritance

Link to MONDO

UUID: f41b647b-fb94-4a81-a9c5-7af893d21641

HGVS expressions

NC_012920.1:m.4769A>G

J01415.2:m.4769A>G

ENST00000361453.3:n.300A>G

Benign

BP7 BA1

Evidence Links 0

Expert Panel

Mitochondrial Diseases VCEP

Criteria Specification Information

Criteria Specifications for this VCEP

Evidence submitted by expert panel

Mitochondrial Diseases VCEP

The m.4769A>G (p.M100M) variant in MT-ND2 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 97.6% (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.

BP7

This is a synonymous variant.

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 97.6% (BA1).

Approved on: 2022-03-24

Published on: 2022-03-24

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