ClinVar Genomic variation as it relates to human health
GRCh37/hg19 17q21.31(chr17:41202796-41974964)
Germline
Classification
(1)
Uncertain significance
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 | |||
BRCA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
13037 | 14843 | |
ARL4D | - | - |
GRCh38 GRCh37 |
10 | 33 | |
CD300LG | - | - |
GRCh38 GRCh37 |
34 | 51 | |
CFAP97D1 | - | - |
GRCh38 GRCh37 |
- | 18 | |
DHX8 | - | - |
GRCh38 GRCh37 |
39 | 108 | |
DUSP3 | - | - |
GRCh38 GRCh37 |
6 | 26 | |
ETV4 | - | - |
GRCh38 GRCh37 |
22 | 89 | |
MEOX1 | - | - |
GRCh38 GRCh37 |
100 | 122 | |
MPP2 | - | - |
GRCh38 GRCh37 |
24 | 38 | |
MPP3 | - | - |
GRCh38 GRCh37 |
32 | 50 |
There are 4 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 |
---|---|---|---|---|
Uncertain significance (1) |
|
Mar 1, 2022 | RCV002052596.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023