ClinVar Genomic variation as it relates to human health
GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3
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 | |||
BRCA2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
18542 | 18699 | |
NBEA | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
446 | 520 | |
RB1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
3237 | 3385 | |
EDNRB | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
84 | 362 | |
CBY2 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
14 | 69 | |
PCDH9 | No evidence available | No evidence available |
GRCh38 GRCh37 |
44 | 128 | |
RXFP2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
75 | 122 | |
ACOD1 | - | - |
GRCh38 GRCh37 |
5 | 75 | |
AKAP11 | - | - |
GRCh38 GRCh37 |
87 | 141 | |
ALG11 | - | - |
GRCh38 GRCh37 |
72 | 258 |
There are 984 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000148244.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023