ClinVar Genomic variation as it relates to human health
GRCh38/hg38 13q12.3-13.3(chr13:29321454-36995348)x3
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 |
18726 | 18884 | |
NBEA | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
467 | 544 | |
TEX26 | - | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
25 | 66 |
RXFP2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
84 | 132 | |
ALG5 | - | - |
GRCh38 GRCh37 |
26 | 77 | |
ALOX5AP | - | - |
GRCh38 GRCh37 |
9 | 55 | |
B3GLCT | - | - |
GRCh38 GRCh37 |
274 | 334 | |
CCDC169 | - | - | - |
GRCh38 GRCh37 |
- | 53 |
CCDC169-SOHLH2 | - | - | - |
GRCh38 GRCh37 |
- | 88 |
CCNA1 | - | - |
GRCh38 GRCh37 |
19 | 76 |
There are 202 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) |
|
Sep 21, 2012 | RCV000142869.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024