ClinVar Genomic variation as it relates to human health
GRCh37/hg19 7q34(chr7:140426294-141883173)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 | |||
BRAF | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1232 | 1342 | |
AGK | - | - |
GRCh38 GRCh38 GRCh37 |
347 | 396 | |
CLEC5A | - | - |
GRCh38 GRCh37 |
10 | 56 | |
DENND11 | - | - |
GRCh38 GRCh38 GRCh37 |
35 | 80 | |
MGAM | - | - |
GRCh38 GRCh38 GRCh37 |
158 | 207 | |
MRPS33 | - | - |
GRCh38 GRCh37 |
6 | 52 | |
OR9A4 | - | - | - |
GRCh38 GRCh37 |
19 | 65 |
PRSS37 | - | - | - |
GRCh38 GRCh37 |
10 | 56 |
SSBP1 | - | - |
GRCh38 GRCh38 GRCh37 |
12 | 59 | |
TAS2R3 | - | - |
GRCh38 GRCh37 |
17 | 63 |
There are 5 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) |
|
Jan 1, 2024 | RCV003885518.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 17, 2024