ClinVar Genomic variation as it relates to human health
NG_012772.3:g.(?_5001)_(88292_?)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 | |||
BRCA2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
18955 | 19114 | |
LOC106721785 | - | - | - | GRCh38 | - | 115 |
LOC112163653 | - | - | - | GRCh38 | - | 37 |
LOC130009523 | - | - | - | GRCh38 | - | 33 |
LOC130009524 | - | - | - | GRCh38 | - | 34 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Oct 2, 2015 | RCV000413148.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 01, 2024