ClinVar Genomic variation as it relates to human health
NM_001267727.2(ARSG):c.1440C>G (p.Pro480=)
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 | |||
ARSG | - | - |
GRCh38 GRCh37 |
318 | 467 | |
PRKAR1A | - | - |
GRCh38 GRCh37 |
1061 | 1306 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Feb 2, 2022 | RCV002581927.9 | |
ARSG-related disorder
|
Likely benign (1) |
|
Aug 10, 2020 | RCV003898811.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jul 15, 2024