ClinVar Genomic variation as it relates to human health
NM_001082486.2(ACD):c.270G>T (p.Gly90=)
Germline
Classification
(2)
Likely benign
criteria provided, multiple submitters, no conflicts
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 | |||
ACD | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1076 | 1249 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Sep 20, 2019 | RCV002344515.2 | |
Likely benign (1) |
|
Feb 20, 2022 | RCV003096681.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 29, 2024