chr6:152094402:T>C Detail (hg38) (ESR1)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr6:152,415,537-152,415,537 View the variant detail on this assembly version.
hg38	chr6:152,094,402-152,094,402

HGVS

ESR1

Type	Transcript	Protein
RefSeq	NM_000125.3:c.1387T>C	NP_000116.2:p.Ser463Pro
	NM_001122741.1:c.1387T>C	NP_001116213.1:p.Ser463Pro
	NM_001291230.1:c.1387T>C	NP_001278159.1:p.Ser463Pro
	NM_001291241.1:c.1387T>C	NP_001278170.1:p.Ser463Pro
	NM_001328100.1:c.851-30864T>C
	NM_001122742.1:c.1387T>C	NP_001116214.1:p.Ser463Pro
	NM_001122740.1:c.1387T>C	NP_001116212.1:p.Ser463Pro
Ensemble	ENST00000206249.8:c.1387T>C	ENST00000206249.8:p.Ser463Pro
	ENST00000338799.9:c.1387T>C	ENST00000338799.9:p.Ser463Pro
	ENST00000406599.5:c.604T>C	ENST00000406599.5:p.Ser202Pro
	ENST00000427531.6:c.851-30864T>C
	ENST00000440973.5:c.1387T>C	ENST00000440973.5:p.Ser463Pro
	ENST00000443427.5:c.1387T>C	ENST00000443427.5:p.Ser463Pro
	ENST00000456483.3:c.*262T>C

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
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Links

ESR1

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	COSM4771561	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2014-10-02	no assertion criteria provided	Breast neoplasm	somatic	Detail

CIViC

Disease	Drug	EL	ET	ED	CS	VO	TR	Pubmed	Links
estrogen-receptor positive breast cancer	Aromatase Inhibitor	D	Predictive	Supports	Resistance	Somatic	2	24185512	Detail

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
ESR1 S463P variants were observed after extensive treatment with hormonal therapy (aromatase inhibit...	CIViC Evidence	Detail
NM_000125.4(ESR1):c.1387T>C (p.Ser463Pro) AND Breast neoplasm	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: rs1057519714 dbSNP
Genome: hg38
Position: chr6:152,094,402-152,094,402
Variant Type: snv
Reference Allele: T
Alternative Allele: C
Variant (CIViC) (CIViC Variant): S463P
Transcript 1 (CIViC Variant): ENST00000440973.1
Variant URL (CIViC Variant): https://civic.genome.wustl.edu/links/variants/692

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