ClinVar Genomic variation as it relates to human health
NM_021948.5(BCAN):c.1377T>C (p.Tyr459=)
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 | |||
BCAN | - | - |
GRCh38 GRCh38 GRCh37 |
- | 82 | |
BCAN-AS1 | - | - | - | GRCh38 | - | 66 |
BCAN-AS2 | - | - | - |
GRCh38 GRCh38 |
- | 66 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Mar 1, 2023 | RCV003409153.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 12, 2024