ClinVar Genomic variation as it relates to human health
GRCh37/hg19 14q31.1-32.2(chr14:81593708-97059276)x3
Germline
Classification
(1)
Likely 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 | |||
DICER1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
6366 | 6404 | |
AK7 | - | - |
GRCh38 GRCh37 |
329 | 360 | |
ASB2 | - | - |
GRCh38 GRCh38 GRCh37 |
51 | 78 | |
ATG2B | - | - |
GRCh38 GRCh37 |
233 | 263 | |
ATXN3 | - | - |
GRCh38 GRCh37 |
29 | 73 | |
BDKRB1 | - | - |
GRCh38 GRCh37 |
26 | 52 | |
BDKRB2 | - | - |
GRCh38 GRCh37 |
25 | 51 | |
BTBD7 | - | - |
GRCh38 GRCh38 GRCh37 |
59 | 85 | |
C14orf132 | - | - | - |
GRCh38 GRCh37 |
3 | 28 |
CALM1 | - | - |
GRCh38 GRCh37 |
96 | 161 |
There are 72 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 |
---|---|---|---|---|
Likely pathogenic (1) |
|
Aug 11, 2021 | RCV002472541.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023