WEE2-AS1
Basic information
Region (hg38): 7:141704003-141738346
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- Inborn genetic diseases (29 variants)
- not provided (8 variants)
- Oocyte maturation defect 5 (6 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the WEE2-AS1 gene is commonly pathogenic or not.
In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.
Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.
Variant type | Pathogenic | Likely pathogenic | VUS | Likely benign | Benign | Sum |
---|---|---|---|---|---|---|
synonymous | 0 | |||||
missense | 0 | |||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 2 | |||||
splice region | 0 | |||||
non coding | 28 | 40 | ||||
Total | 7 | 0 | 28 | 4 | 3 |
Highest pathogenic variant AF is 0.0000394
Variants in WEE2-AS1
This is a list of pathogenic ClinVar variants found in the WEE2-AS1 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
7-141708810-T-C | not specified | Uncertain significance (May 31, 2023) | ||
7-141708820-A-T | not specified | Uncertain significance (Dec 05, 2022) | ||
7-141708827-G-C | not specified | Uncertain significance (Jul 26, 2022) | ||
7-141708868-C-T | not specified | Likely benign (Apr 04, 2024) | ||
7-141708918-A-T | not specified | Uncertain significance (Dec 05, 2023) | ||
7-141708921-C-T | not specified | Uncertain significance (Aug 02, 2022) | ||
7-141708944-C-T | WEE2-related disorder | Likely benign (Apr 26, 2019) | ||
7-141708967-C-T | not specified | Uncertain significance (Oct 27, 2021) | ||
7-141708968-G-A | Likely benign (Jul 31, 2018) | |||
7-141708977-CAAAG-C | Oocyte maturation defect 5 • WEE2-related disorder | Pathogenic (Apr 12, 2024) | ||
7-141709035-G-C | not specified | Uncertain significance (Oct 05, 2023) | ||
7-141709045-C-T | not specified | Uncertain significance (Jun 22, 2021) | ||
7-141709058-C-T | WEE2-related disorder | Likely benign (Apr 05, 2019) | ||
7-141714268-G-A | WEE2-related disorder | Likely benign (Jul 02, 2019) | ||
7-141714353-T-C | Oocyte maturation defect 5 | Uncertain significance (Mar 26, 2024) | ||
7-141714379-T-C | Benign (Jul 16, 2018) | |||
7-141716226-G-C | not specified | Uncertain significance (Dec 13, 2021) | ||
7-141716263-C-A | not specified | Uncertain significance (Jan 30, 2024) | ||
7-141719084-C-T | Oocyte maturation defect 5 | Pathogenic (Apr 10, 2023) | ||
7-141719085-G-A | not specified | Uncertain significance (Jan 07, 2022) | ||
7-141719181-G-A | not specified | Uncertain significance (Oct 27, 2023) | ||
7-141719186-G-C | Oocyte maturation defect 5 | Pathogenic (Apr 10, 2023) | ||
7-141719205-T-C | not specified | Uncertain significance (Aug 10, 2021) | ||
7-141719210-C-T | not specified | Uncertain significance (Feb 27, 2023) | ||
7-141719211-G-A | not specified | Uncertain significance (Nov 10, 2021) |
GnomAD
Source:
dbNSFP
Source: