ClinVar Genomic variation as it relates to human health
NM_206933.4(USH2A):c.6159del (p.Glu2054fs)
Germline
Classification
(10)
Pathogenic/Likely pathogenic
criteria provided, multiple submitters, no conflicts
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 | |||
USH2A | - | - |
GRCh38 GRCh37 |
7086 | 8581 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (2) |
|
Dec 11, 2023 | RCV000596278.10 | |
Pathogenic/Likely pathogenic (3) |
|
Jan 1, 2024 | RCV000667726.5 | |
Likely pathogenic (1) |
|
Jul 16, 2019 | RCV001074344.3 | |
Likely pathogenic (1) |
|
Nov 2, 2020 | RCV001269147.2 | |
Pathogenic (1) |
|
Jun 23, 2019 | RCV001003270.2 | |
Pathogenic/Likely pathogenic (2) |
|
Nov 4, 2023 | RCV003326139.2 |
Citations for germline classification of this variant
HelpText-mined citations for rs769838859 ...
HelpThese citations are identified by LitVar using
the rs number, so they may include citations for more than one variant
at this location. Please review the LitVar results carefully for your
variant of interest.
Record last updated Dec 07, 2024