chr7:55242465:GGAATTAAGAGAAGC> Detail (hg19) (EGFR)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr7:55,242,465-55,242,479 |
| hg38 | chr7:55,174,772-55,174,786 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_005228.3:c.2235_2249delGGAATTAAGAGAAGC | NP_005219.2:p.Glu746_Ala750del |
| NM_001346897.1:c.2100_2114delGGAATTAAGAGAAGC | NP_001333826.1:p.Glu701_Ala705del | |
| Ensemble | ENST00000275493.7:c.2235_2249delGGAATTAAGAGAAGC | ENST00000275493.7:p.Glu746_Ala750del |
Summary
MGeND
| Clinical significance |
not provided
|
| Variant entry | 129 |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance | Conflicting classifications of pathogenicity |
| Review star |  |
| Show details | |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
not provided
|
Non-small cell lung cancer |
somatic
|
MGS000026
(TMGS000046) |
Manabu Muto | Kyoto University | ||||
|
not provided
|
Non-small cell lung cancer |
somatic
|
MGS000018
(TMGS000110) |
Hitoshi Nakagama | National Cancer Center Japan |
30742731
|
|||
|
not provided
|
lung cancer |
somatic
|
MGS000039
(TMGS000092) |
Hitoshi Nakagama | National Cancer Center Japan |
29659903
|
|||
|
not provided
|
bronchus or lung, unspecified |
not provided
|
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
bronchus or lung, unspecified |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
drug response
|
2006-10-28 | no assertion criteria provided |
somatic
|
Detail | |
Uncertain significance
|
2022-08-27 | criteria provided, single submitter | EGFR-related lung cancer |
germline
|
Detail |
Pathogenic
|
2022-06-06 | criteria provided, single submitter | lung adenocarcinoma |
somatic
|
Detail |
CIViC
| Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
|---|---|---|---|---|---|---|---|---|---|
| bronchiolo-alveolar adenocarcinoma | Erlotinib | C |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 3 | 15329413 | Detail |
| lung non-small cell carcinoma | Gefitinib | C |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 4 | 15329413 | Detail |
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| EGFR exons 18-24 were analyzed in 7 patients who had shown a partial response to erlotinib in a phas... | CIViC Evidence | Detail |
| Mutational profiling was performed on EGFR exons 18-24 from a group of 10 retrospectively chosen pat... | CIViC Evidence | Detail |
| NM_005228.5(EGFR):c.2235_2249del (p.Glu746_Ala750del) AND Tyrosine kinase inhibitor response | ClinVar | Detail |
| NM_005228.5(EGFR):c.2235_2249del (p.Glu746_Ala750del) AND EGFR-related lung cancer | ClinVar | Detail |
| NM_005228.5(EGFR):c.2235_2249del (p.Glu746_Ala750del) AND Lung adenocarcinoma | ClinVar | Detail |
Overlapped Transcript Coordinates
| Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
|---|
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs121913421 dbSNP
- Genome
- hg19
- Position
- chr7:55,242,465-55,242,479
- Variant Type
- snv
- Reference Allele
- GGAATTAAGAGAAGC
- Alternative Allele
- -
- Variant (CIViC) (CIViC Variant)
- E746_A750del
- Transcript 1 (CIViC Variant)
- ENST00000275493.2
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/1002
Genome browser