ClinVar Genomic variation as it relates to human health
GRCh37/hg19 13q12.3-13.1(chr13:31682663-33765790)x1
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 | |||
BRCA2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
18773 | 18931 | |
RXFP2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
84 | 132 | |
B3GLCT | - | - |
GRCh38 GRCh37 |
274 | 334 | |
FRY | - | - |
GRCh38 GRCh37 |
141 | 201 | |
HSPH1 | - | - |
GRCh38 GRCh37 |
37 | 81 | |
KL | - | - |
GRCh38 GRCh37 |
409 | 469 | |
N4BP2L1 | - | - | - |
GRCh38 GRCh37 |
11 | 64 |
N4BP2L2 | - | - |
GRCh38 GRCh37 |
10 | 63 | |
PDS5B | - | - |
GRCh38 GRCh37 |
56 | 108 | |
STARD13 | - | - |
GRCh38 GRCh37 |
88 | 138 |
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 |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Oct 22, 2014 | RCV000511780.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024