ClinVar Genomic variation as it relates to human health
GRCh37/hg19 5p15.33(chr5:113576-4175855)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 |
2971 | 3413 | |
SLC6A18 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
86 | 243 | |
AHRR | - | - |
GRCh38 GRCh37 |
1 | 241 | |
BRD9 | - | - |
GRCh38 GRCh37 |
38 | 196 | |
CCDC127 | - | - | - |
GRCh38 GRCh37 |
27 | 178 |
CEP72 | - | - |
GRCh38 GRCh38 GRCh37 |
58 | 241 | |
CLPTM1L | - | - |
GRCh38 GRCh38 GRCh37 |
60 | 207 | |
EXOC3 | - | - |
GRCh38 GRCh37 |
58 | 210 | |
EXOC3-AS1 | - | - | - |
GRCh38 GRCh37 |
- | 150 |
IRX1 | - | - |
GRCh38 GRCh37 |
53 | 180 |
There are 19 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
|
Pathogenic (1) |
|
May 16, 2014 | RCV000512452.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024