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
  • There was no gene found in the curated document received from the VCI/VCEP
  • Gene was also not found in ClinVar or the Allele Registry
  • See Evidence submitted by expert panel for details.

Variant: NC_012920.1:m.4735C>G

CA414775553

Gene: N/A
Condition: mitochondrial disease
Inheritance Mode: Mitochondrial inheritance
Link to MONDO
UUID: 6b57451e-d73f-4e6d-a95c-c3cd2c6e5e06

HGVS expressions

NC_012920.1:m.4735C>G
J01415.2:m.4735C>G
ENST00000361453.3:n.266C>G

Uncertain Significance

Met criteria codes 2
BP4 PM2_Supporting
Not Met criteria codes 3
PS3 PS4 PP1

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specifications for this VCEP
Evidence submitted by expert panel
Mitochondrial Diseases VCEP
The m.4735C>G (p.T89N) 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). There have been no affected individuals reported in the medical literature to our knowledge. There are no large families reported in the medical literature to consider for evidence of segregation. This variant is absent in population databases (PM2_supporting, most recently queried 3/22/2021). In silico tools (APOGEE) predict this variant to be neutral with a score of 0.31 (BP4). There are no cybrid or single fiber studies reported on this variant. In summary, this variant meets criteria to be classified as uncertain significance for primary mitochondrial disease inherited in a mitochondrial manner. 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: PM2_supporting, BP4.
Met criteria codes
BP4
In silico tools (APOGEE) predict this variant to be neutral with a score of 0.31 (BP4).
PM2_Supporting
This variant is absent in population databases (PM2_supporting, most recently queried 3/22/2021).
Not Met criteria codes
PS3
There are no cybrid or single fiber studies reported on this variant.
PS4
There have been no affected individuals reported in the medical literature to our knowledge.
PP1
There are no large families reported in the medical literature to consider for evidence of segregation.
Approved on: 2021-12-10
Published on: 2021-12-10
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