ClinVar Genomic variation as it relates to human health
GRCh37/hg19 17q22(chr17:55916829-56770618)x1
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 | |||
RAD51C | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1856 | 2065 | |
C17orf47 | - | - | - |
GRCh38 GRCh37 |
- | 16 |
CUEDC1 | - | - | - |
GRCh38 GRCh37 |
- | 16 |
DYNLL2 | - | - |
GRCh38 GRCh37 |
4 | 19 | |
DYNLL2-DT | - | - | - |
GRCh38 GRCh37 |
- | 15 |
EPX | - | - |
GRCh38 GRCh37 |
87 | 100 | |
HSF5 | - | - | - |
GRCh38 GRCh37 |
14 | 33 |
LPO | - | - |
GRCh38 GRCh37 |
47 | 62 | |
MKS1 | - | - |
GRCh38 GRCh37 |
978 | 1063 | |
MPO | - | - |
GRCh38 GRCh37 |
44 | 108 |
There are 11 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Likely pathogenic (1) |
|
Jan 20, 2016 | RCV000239996.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022