ClinVar Genomic variation as it relates to human health
GRCh37/hg19 11q22.1-22.3(chr11:101371503-109306519)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 | |||
ATM | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
10314 | 16610 | |
YAP1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
67 | 92 | |
AASDHPPT | - | - |
GRCh38 GRCh37 |
19 | 45 | |
ACAT1 | - | - |
GRCh38 GRCh37 |
718 | 741 | |
ALKBH8 | - | - |
GRCh38 GRCh37 |
87 | 106 | |
ANGPTL5 | - | - |
GRCh38 GRCh37 |
19 | 48 | |
BIRC2 | - | - |
GRCh38 GRCh37 |
37 | 63 | |
BIRC3 | - | - |
GRCh38 GRCh37 |
30 | 55 | |
C11orf65 | - | - | - |
GRCh38 GRCh37 |
3 | 6280 |
C11orf87 | - | - | - |
GRCh38 GRCh37 |
2 | 18 |
There are 39 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) |
|
Jun 3, 2021 | RCV002472494.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023