ClinVar Genomic variation as it relates to human health
GRCh37/hg19 16p13.3(chr16:2142976-2311160)x3
Germline
Classification
(1)
Benign
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 | |||
PKD1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
3044 | 3549 | |
BRICD5 | - | - | - |
GRCh38 GRCh37 |
15 | 79 |
CASKIN1 | - | - |
GRCh38 GRCh37 |
85 | 151 | |
DNASE1L2 | - | - |
GRCh38 GRCh37 |
8 | 67 | |
E4F1 | - | - |
GRCh38 GRCh37 |
37 | 99 | |
ECI1 | - | - |
GRCh38 GRCh37 |
22 | 82 | |
MLST8 | - | - |
GRCh38 GRCh37 |
7 | 71 | |
PGP | - | - |
GRCh38 GRCh37 |
7 | 69 | |
RAB26 | - | - |
GRCh38 GRCh37 |
23 | 89 | |
RNPS1 | - | - |
GRCh38 GRCh37 |
18 | 72 |
There is 1 more gene 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 |
---|---|---|---|---|
Benign (1) |
|
Mar 9, 2013 | RCV000739004.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 05, 2023