ClinVar Genomic variation as it relates to human health
GRCh38/hg38 5p15.33-15.32(chr5:95128-5834551)x1
Germline
Classification
(1)
Pathogenic
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 |
2810 | 3228 | |
SLC6A18 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
64 | 216 | |
ADAMTS16 | - | - |
GRCh38 GRCh37 |
64 | 181 | |
ADAMTS16-DT | - | - | - | GRCh38 | - | 48 |
AHRR | - | - |
GRCh38 GRCh37 |
1 | 214 | |
BRD9 | - | - |
GRCh38 GRCh37 |
22 | 176 | |
CCDC127 | - | - | - |
GRCh38 GRCh37 |
20 | 168 |
CEP72 | - | - |
GRCh38 GRCh38 GRCh37 |
38 | 211 | |
CEP72-DT | - | - | - |
GRCh38 GRCh38 |
- | 64 |
CLPTM1L | - | - |
GRCh38 GRCh38 GRCh37 |
47 | 189 |
There are 219 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Oct 14, 2010 | RCV000142697.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023