EGFR-AS1

EGFR antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 7:55179750-55212969

Links

ENSG00000224057 ∙ NCBI:100507500 ∙ ∙ HGNC:40207 ∙ ∙ ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the EGFR-AS1 gene.

• 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	8	9	71	59	5	152
Total	8	9	71	59	5

Variants in EGFR-AS1

This is a list of pathogenic ClinVar variants found in the EGFR-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
7-55181094-T-C			Benign (Jan 10, 2019)
7-55181233-T-C			Benign (Feb 07, 2019)
7-55181237-C-T			Likely benign (Jun 17, 2019)
7-55181273-G-A		EGFR-related lung cancer • Lung cancer	Benign/Likely benign (Dec 12, 2024)
7-55181273-G-C		EGFR-related lung cancer • Lung cancer	Likely benign (Oct 16, 2024)
7-55181273-G-T		EGFR-related lung cancer • Lung cancer	Likely benign (Oct 16, 2024)
7-55181274-T-A		EGFR-related lung cancer	Likely benign (Mar 11, 2022)
7-55181275-G-A		EGFR-related lung cancer • Lung cancer	Likely benign (Nov 12, 2024)
7-55181275-G-T		EGFR-related lung cancer	Likely benign (May 18, 2023)
7-55181276-C-A		EGFR-related lung cancer	Likely benign (Feb 17, 2024)
7-55181276-C-G		EGFR-related lung cancer	Likely benign (Feb 15, 2024)
7-55181277-C-T		EGFR-related lung cancer • Lung cancer	Likely benign (Oct 16, 2024)
7-55181278-T-C		Lung cancer	Likely benign (Oct 16, 2024)
7-55181279-C-G		EGFR-related lung cancer	Likely benign (Aug 17, 2023)
7-55181280-T-C		EGFR-related lung cancer • Lung cancer	Benign/Likely benign (Oct 16, 2024)
7-55181283-C-G		EGFR-related lung cancer	Likely benign (Sep 07, 2022)
7-55181283-C-T		EGFR-related lung cancer • Lung cancer	Likely benign (Oct 16, 2024)
7-55181284-T-G		EGFR-related lung cancer	Likely benign (Jan 01, 2023)
7-55181286-C-T		EGFR-related lung cancer	Likely benign (Feb 05, 2020)
7-55181287-CTCCAGGAAGCCT-C		not specified	Uncertain significance (Sep 04, 2009)
7-55181287-C-CTCCAGGAAGCCT		Non-small cell lung carcinoma	Likely pathogenic (Jul 01, 2011)
7-55181289-C-G		EGFR-related lung cancer • Hereditary cancer-predisposing syndrome • Lung cancer	Conflicting classifications of pathogenicity (Dec 14, 2024)
7-55181290-C-A		EGFR-related lung cancer	Uncertain significance (Mar 08, 2022)
7-55181293-G-A		EGFR-related lung cancer	Uncertain significance (Dec 05, 2021)
7-55181295-A-G		EGFR-related lung cancer	Likely benign (Nov 03, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP