ClinVar Genomic variation as it relates to human health
GRCh37/hg19 5p15.33(chr5:499883-1309062)x3
Germline
Classification
(1)
Likely benign
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 | |||
TERT | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2967 | 3400 | |
SLC6A18 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
83 | 238 | |
BRD9 | - | - |
GRCh38 GRCh37 |
29 | 187 | |
CEP72 | - | - |
GRCh38 GRCh38 GRCh37 |
52 | 234 | |
NKD2 | - | - |
GRCh38 GRCh38 GRCh37 |
56 | 210 | |
SLC12A7 | - | - |
GRCh38 GRCh38 GRCh37 |
157 | 314 | |
SLC6A19 | - | - |
GRCh38 GRCh37 |
423 | 580 | |
SLC9A3 | - | - |
GRCh38 GRCh38 GRCh37 |
374 | 801 | |
TPPP | - | - |
GRCh38 GRCh37 |
7 | 189 | |
TRIP13 | - | - |
GRCh38 GRCh37 |
113 | 270 |
There are 2 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 |
---|---|---|---|---|
Likely benign (1) |
|
Dec 11, 2019 | RCV001258845.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023