chr6:152419923:A>C Detail (hg19) (ESR1)

Information

Genome

Assembly Position
hg19 chr6:152,419,923-152,419,923
hg38 chr6:152,098,788-152,098,788 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000125.3:c.1610A>C NP_000116.2:p.Tyr537Ser
NM_001122741.1:c.1610A>C NP_001116213.1:p.Tyr537Ser
NM_001291230.1:c.1610A>C NP_001278159.1:p.Tyr537Ser
Summary

MGeND

Clinical significance not provided
Variant entry 1
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 COSM1074639 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided sigmoid colon 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
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
MCF7 cell lines harboring the L537S 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
hg19
Position
chr6:152,419,923-152,419,923
Variant Type
snv
Reference Allele
A
Alternative Allele
C
Variant (CIViC) (CIViC Variant)
Y537S
Transcript 1 (CIViC Variant)
ENST00000206249.3
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/50
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. Y537S 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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