ClinVar Genomic variation as it relates to human health
NM_033278.4(TRIM3):c.1316G>C (p.Gly439Ala)
Germline
Classification
(2)
Conflicting classifications of pathogenicity
Uncertain significance(1); Likely benign(1)
Uncertain significance(1); Likely benign(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 | |||
TRIM3 | - | - |
GRCh38 GRCh37 |
27 | 47 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
TRIM3-related disorder
|
Likely benign (1) |
|
Mar 29, 2023 | RCV003946391.1 |
Uncertain significance (1) |
|
Jul 6, 2021 | RCV004191177.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 02, 2024