ClinVar Genomic variation as it relates to human health
GRCh37/hg19 5p15.33-15.1(chr5:113576-17511896)x1
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 | |||
TRIO | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1213 | 1389 | |
CTNND2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
270 | 382 | |
TERT | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2810 | 3231 | |
SLC6A18 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
83 | 238 | |
ANKH | No evidence available | No evidence available |
GRCh38 GRCh37 |
207 | 556 | |
ADAMTS16 | - | - |
GRCh38 GRCh37 |
81 | 201 | |
ADCY2 | - | - |
GRCh38 GRCh37 |
42 | 151 | |
AHRR | - | - |
GRCh38 GRCh37 |
1 | 231 | |
ANKRD33B | - | - | - |
GRCh38 GRCh37 |
45 | 151 |
ATPSCKMT | - | - |
GRCh38 GRCh37 |
15 | 117 |
There are 53 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) |
|
- | RCV003986589.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 30, 2024