ClinVar Genomic variation as it relates to human health
GRCh37/hg19 3p24.3-21.31(chr3:16923595-45249923)x2,3
Germline
Classification
(1)
Pathogenic
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 | |||
CTNNB1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
386 | 750 | |
MLH1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
5632 | 5687 | |
SCN5A | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
3742 | 4178 | |
TGFBR2 | Some evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1149 | 1176 | |
RPL15 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
- | 156 | |
SLC22A14 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
39 | 56 | |
TBC1D5 | No evidence available | No evidence available |
GRCh38 GRCh37 |
35 | 61 | |
ABHD5 | - | - |
GRCh38 GRCh37 |
263 | 317 | |
ACAA1 | - | - |
GRCh38 GRCh37 |
30 | 48 | |
ACKR2 | - | - |
GRCh38 GRCh37 |
8 | 14 |
There are 127 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) |
|
Oct 20, 2017 | RCV000682249.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023