ClinVar Genomic variation as it relates to human health
NM_201280.3(BLOC1S5):c.19G>T (p.Glu7Ter)
Germline
Classification
(1)
Likely pathogenic
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 | |||
BLOC1S5 | - | - |
GRCh38 GRCh37 |
2 | 51 | |
BLOC1S5-TXNDC5 | - | - | - | GRCh38 | - | 62 |
EEF1E1-BLOC1S5 | - | - | - | GRCh38 | - | 32 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
Sep 23, 2022 | RCV003225915.8 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 23, 2024