ClinVar Genomic variation as it relates to human health
NM_001098.3(ACO2):c.1534G>A (p.Asp512Asn)
Germline
Classification
(2)
Conflicting classifications of pathogenicity
Likely pathogenic(1); Uncertain significance(1)
Likely pathogenic(1); Uncertain significance(1)
criteria provided, conflicting classifications
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 | |||
ACO2 | - | - |
GRCh38 GRCh37 |
504 | 778 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
Dec 17, 2022 | RCV002508871.4 | |
Uncertain significance (1) |
|
Feb 9, 2023 | RCV003329179.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jul 07, 2024