ClinVar Genomic variation as it relates to human health
GRCh38/hg38 5p15.33(chr5:924086-1544344)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 | |||
TERT | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2978 | 3421 | |
SLC6A18 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
86 | 243 | |
CLPTM1L | - | - |
GRCh38 GRCh38 GRCh37 |
60 | 207 | |
LINC01511 | - | - | - |
GRCh38 GRCh38 |
- | 59 |
LINC02982 | - | - | - |
GRCh38 GRCh38 |
- | 61 |
LOC110806263 | - | - | - | GRCh38 | - | 337 |
LOC110806264 | - | - | - | GRCh38 | - | 66 |
LOC112997548 | - | - | - |
GRCh38 GRCh38 |
- | 59 |
LOC116158511 | - | - | - | GRCh38 | - | 59 |
LOC121056758 | - | - | - |
GRCh38 GRCh38 |
- | 61 |
There are 28 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Aug 5, 2011 | RCV000135933.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024