ClinVar Genomic variation as it relates to human health
GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)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 | |||
BRCA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
13040 | 14846 | |
EFTUD2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
670 | 683 | |
KRT24 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
40 | 46 | |
KRT37 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh38 GRCh38 GRCh37 |
43 | 50 | |
THRA | No evidence available | No evidence available |
GRCh38 GRCh37 |
60 | 77 | |
AARSD1 | - | - |
GRCh38 GRCh37 |
- | 54 | |
ACBD4 | - | - |
GRCh38 GRCh37 |
27 | 46 | |
ACLY | - | - |
GRCh38 GRCh37 |
64 | 71 | |
ADAM11 | - | - |
GRCh38 GRCh37 |
46 | 57 | |
AOC2 | - | - |
GRCh38 GRCh37 |
70 | 76 |
There are 625 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 |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000052479.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 01, 2024