ClinVar Genomic variation as it relates to human health
NM_012210.4(TRIM32):c.510G>A (p.Leu170=)
Germline
Classification
(1)
Likely benign
criteria provided, single submitter
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 | |||
ASTN2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
178 | 972 | |
TRIM32 | - | - |
GRCh38 GRCh37 |
- | 773 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Sep 18, 2023 | RCV003634235.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 30, 2024