ClinVar Genomic variation as it relates to human health
NG_005905.2:g.(?_92501)_(135581_1441370)del
Germline
Classification
(1)
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 | |||
BRCA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
12752 | 14513 | |
LOC110485084 | - | - | - | GRCh38 | - | 77 |
LOC111589215 | - | - | - | GRCh38 | - | 138 |
LOC111589216 | - | - | - | GRCh38 | - | 74 |
LOC125177482 | - | - | - | GRCh38 | - | 5 |
LOC126862571 | - | - | - | GRCh38 | - | 1613 |
LOC130060934 | - | - | - | GRCh38 | - | 5 |
RND2 | - | - |
GRCh38 GRCh37 |
12 | 21 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Oct 2, 2015 | RCV000412827.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 30, 2024