chr6:152098791:A>G Detail (hg38) (ESR1)

Information

Genome

Assembly Position
hg19 chr6:152,419,926-152,419,926 View the variant detail on this assembly version.
hg38 chr6:152,098,791-152,098,791

HGVS

Type Transcript Protein
RefSeq NM_000125.3:c.1613A>G NP_000116.2:p.Asp538Gly
NM_001122741.1:c.1613A>G NP_001116213.1:p.Asp538Gly
NM_001291230.1:c.1613A>G NP_001278159.1:p.Asp538Gly
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 133430 OMIM
HGNC 3467 HGNC
Ensembl ENSG00000091831 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM94250 COSMIC
MONDO
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
breast cancer Palbociclib,Letrozole B Predictive Does Not Support Sensitivity/Response Somatic 2 27556863 Detail
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
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
hg38
Position
chr6:152,098,791-152,098,791
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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