ClinVar Genomic variation as it relates to human health
GRCh37/hg19 3q29(chr3:196552734-197498996)x3
Germline
Classification
(1)
Uncertain significance
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 | |||
PAK2 | Little evidence for dosage pathogenicity | Little evidence for dosage pathogenicity |
GRCh38 GRCh37 |
21 | 126 | |
BDH1 | - | - |
GRCh38 GRCh38 GRCh37 |
49 | 153 | |
DLG1 | - | - |
GRCh38 GRCh37 |
74 | 181 | |
FYTTD1 | - | - |
GRCh38 GRCh37 |
15 | 76 | |
MELTF | - | - |
GRCh38 GRCh37 |
12 | 115 | |
NCBP2 | - | - |
GRCh38 GRCh37 |
4 | 106 | |
PIGZ | - | - |
GRCh38 GRCh37 |
67 | 169 | |
RUBCN | - | - |
GRCh38 GRCh37 |
133 | 194 | |
SENP5 | - | - |
GRCh38 GRCh37 |
44 | 148 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Aug 16, 2019 | RCV001259833.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022