EGFR-AS1
Basic information
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- EGFR-related lung cancer (123 variants)
- not specified (20 variants)
- Tyrosine kinase inhibitor response (14 variants)
- Non-small cell lung carcinoma (14 variants)
- not provided (10 variants)
- Hereditary cancer-predisposing syndrome (8 variants)
- Lung cancer (6 variants)
- Lung carcinoma (4 variants)
- Inflammatory skin and bowel disease, neonatal, 2 (2 variants)
- Squamous cell carcinoma (2 variants)
- Squamous cell carcinoma of the head and neck (2 variants)
- Malignant tumor of urinary bladder (2 variants)
- Squamous cell lung carcinoma (2 variants)
- Esophageal carcinoma (1 variants)
- erlotinib response - Efficacy (1 variants)
- Hereditary cancer (1 variants)
- gefitinib response - Efficacy (1 variants)
- Lung adenocarcinoma (1 variants)
- Nonsmall cell lung cancer, resistance to tyrosine kinase inhibitor in (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the EGFR-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) | 0 | |||||
splice region ? | 0 | |||||
non coding ? | 71 | 59 | 152 | |||
Total | 8 | 9 | 71 | 59 | 5 |
GnomAD
Source:
dbNSFP
Source: