chr6:152098785:TC>AG Detail (hg38) (ESR1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr6:152,419,920-152,419,921 View the variant detail on this assembly version. |
| hg38 | chr6:152,098,785-152,098,786 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000125.3:c.1607_1608delinsAG | NP_000116.2:p.Leu536Gln |
| NM_001122741.1:c.1607_1608delinsAG | NP_001116213.1:p.Leu536Gln | |
| NM_001291230.1:c.1607_1608delinsAG | NP_001278159.1:p.Leu536Gln |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
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 |
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| MCF7 cell lines harboring the L536Q 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 |
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
- hg38
- Position
- chr6:152,098,785-152,098,786
- Variant Type
- snv
- Reference Allele
- TC
- Alternative Allele
- AG
- Variant (CIViC) (CIViC Variant)
- L536Q
- Transcript 1 (CIViC Variant)
- ENST00000440973.1
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/46
- 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. Y536Q 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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