ClinVar Genomic variation as it relates to human health
GRCh37/hg19 5p15.33-15.31(chr5:140474-9792158)
Germline
Classification
(1)
Pathogenic
criteria provided, single submitter
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 | 3231 | |
SLC6A18 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
83 | 238 | |
ADAMTS16 | - | - |
GRCh38 GRCh37 |
81 | 201 | |
ADCY2 | - | - |
GRCh38 GRCh37 |
43 | 152 | |
AHRR | - | - |
GRCh38 GRCh37 |
1 | 231 | |
BRD9 | - | - |
GRCh38 GRCh37 |
29 | 187 | |
CCDC127 | - | - | - |
GRCh38 GRCh37 |
24 | 175 |
CEP72 | - | - |
GRCh38 GRCh38 GRCh37 |
52 | 234 | |
CFAP90 | - | - | - |
GRCh38 GRCh37 |
- | 101 |
CLPTM1L | - | - |
GRCh38 GRCh38 GRCh37 |
54 | 199 |
There are 32 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Nov 1, 2018 | RCV000767710.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023