ClinVar Genomic variation as it relates to human health
NC_000010.11:g.119674392_119683124del
Germline
Classification
(1)
Pathogenic
no assertion criteria provided
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 | |||
BAG3 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1091 | 1127 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Mar 11, 2011 | RCV000023348.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 07, 2023
NCBI staff provided HGVS expressions for allelic variant 603883.0002 by establishing the starting position of the deletion from the sequence reported in Figure 2 of the paper by Norton et al., 2011 (PubMed 21353195) and extending 8733 bp. The downstream sequence in the figure was not confirmed.