ClinVar Genomic variation as it relates to human health
NC_012920.1(MT-TS2):m.8290_13040del
Germline
Classification
(1)
Pathogenic
no assertion criteria provided
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
MT-ATP6 | - | - | GRCh38 | 271 | 317 | |
MT-ATP8 | - | - | GRCh38 | 64 | 106 | |
MT-CO3 | - | - | GRCh38 | 165 | 180 | |
MT-ND3 | - | - | GRCh38 | 45 | 60 | |
MT-ND4 | - | - | GRCh38 | 131 | 150 | |
MT-ND4L | - | - | GRCh38 | 30 | 45 | |
MT-ND5 | - | - | GRCh38 | 310 | 328 | |
MT-TG | - | - | GRCh38 | 30 | 44 | |
MT-TH | - | - | GRCh38 | 40 | 57 | |
MT-TK | - | - | GRCh38 | 37 | 47 |
There are 3 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
May 22, 2017 | RCV000495493.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 01, 2024