chr6:152419926:A>G Detail (hg19) (ESR1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr6:152,419,926-152,419,926 |
| hg38 | chr6:152,098,791-152,098,791 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001328100.1:c.851-26475A>G | |
| NM_000125.3:c.1613A>G | NP_000116.2:p.Asp538Gly | |
| NM_001122741.1:c.1613A>G | NP_001116213.1:p.Asp538Gly |
Summary
MGeND
| Clinical significance |
Pathogenic
not provided
|
| Variant entry | 5 |
| GWAS entry | |
| Disease area statistics | Show details |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Pathogenic
|
breast |
somatic
|
MGS000038
(TMGS000091) |
Manabu Muto Ichiro Kinoshita |
Kyoto University Department of Medical Oncology Faculty of Medicine and Graduate School of Medicine Hokkaido University |
||||
|
Pathogenic
|
breast |
germline
|
MGS000038
(TMGS000091) |
Manabu Muto Ichiro Kinoshita |
Kyoto University Department of Medical Oncology Faculty of Medicine and Graduate School of Medicine Hokkaido University |
||||
|
not provided
|
Endometrioid carcinoma ovary (disorder) |
unknown
|
MGS000021
(TMGS000080) |
Manabu Muto | Kyoto University | ||||
|
not provided
|
bronchus or lung, unspecified |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan |
ClinVar
[No Data.]
CIViC
| Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
|---|---|---|---|---|---|---|---|---|---|
| breast cancer | Hormone Therapy | D |
Predictive
|
Supports
|
Resistance | Somatic | 3 | 24185512 | Detail |
| breast cancer | Fulvestrant,Tamoxifen | D |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 5 | 24185510 | Detail |
| breast cancer | Palbociclib,Letrozole | B |
Predictive
|
Does Not Support
|
Sensitivity/Response | Somatic | 2 | 27556863 | Detail |
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| MCF7 cell lines harboring the D538G mutation in the ligand-binding domain of ESR1 have shown resista... | CIViC Evidence | Detail |
| Using an estrogen response element (ERE)-luciferase reporter system co-transfected with one of five ... | CIViC Evidence | Detail |
| In a study of 16 patients with metastatic breast cancer (NCT02142868) treated with palbociclib in co... | CIViC Evidence | 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
- -
- Genome
- hg19
- Position
- chr6:152,419,926-152,419,926
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
- Variant (CIViC) (CIViC Variant)
- D538G
- Transcript 1 (CIViC Variant)
- ENST00000206249.3
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/47
- Summary (CIViC Variant)
- ESR1 biology has become a central focus in breast cancer therapy. In ER+ tumors, mutations in the ESR1 ligand binding domain have been shown to confer resistance to hormone therapy. This evidence has led to an increased use of targeted sequencing of the estrogen receptor in breast and ovarian cancer. D538G is one of these ligand binding domain mutations, and is commonly implicated in this hormone resistance. Preliminary data suggests ER-degrading agents, such as fulvestrant, may be beneficial in treating ESR1 mutant, hormone resistant breast cancers.
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