ClinVar Genomic variation as it relates to human health
NM_012210.4(TRIM32):c.468G>T (p.Leu156=)
Germline
Classification
(2)
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 | 975 | |
TRIM32 | - | - |
GRCh38 GRCh37 |
- | 776 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Jun 23, 2023 | RCV003633460.2 | |
TRIM32-related disorder
|
Likely benign (1) |
|
Aug 29, 2024 | RCV004750422.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 13, 2024