chr6:151944387:G>C Detail (hg38) (ESR1)

Information

Genome

Assembly Position
hg19 chr6:152,265,522-152,265,522 View the variant detail on this assembly version.
hg38 chr6:151,944,387-151,944,387

HGVS

Type Transcript Protein
RefSeq NM_000125.3:c.975G>C NP_000116.2:p.Pro325=
NM_001122741.1:c.975G>C NP_001116213.1:p.Pro325=
NM_001291230.1:c.975G>C NP_001278159.1:p.Pro325=
Summary

MGeND

Clinical significance Benign
Variant entry 1
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.495
ToMMo:0.494
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.510

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 tgv27497312 TogoVar
COSMIC COSM4003740 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Benign Centenarian germline MGS000068
(TMGS000140) 		Kenjiro Kosaki Keio University
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 Tension Headache We aimed to explore the single-locus, haplotype and epistasis patterns and the c... BeFree 19673915 Detail
<0.001 Tension Headache We aimed to explore the single-locus, haplotype and epistasis patterns and the c... BeFree 19673915 Detail
0.240 Malignant neoplasm of breast When stratified by ER status, ESR1 rs1801132, rs2046210, and rs3020314 showed st... BeFree 25228414 Detail
0.005 Sporadic Breast Carcinoma The estrogen receptor alpha C975G variant in familial and sporadic breast cancer... BeFree 16886637 Detail
0.003 dementia Significant association was found between ESR1 polymorphisms (rs9340799 [ESR1+35... BeFree 23567436 Detail
<0.001 Mild dementia Significant association was found between ESR1 polymorphisms (rs9340799 [ESR1+35... BeFree 23567436 Detail
0.080 breast carcinoma When stratified by ER status, ESR1 rs1801132, rs2046210, and rs3020314 showed st... BeFree 25228414 Detail
<0.001 HIV Infections To investigate genetic single nucleotide polymorphisms (SNPs) in estrogen recept... BeFree 22011627 Detail
0.003 Metabolic syndrome X To investigate genetic single nucleotide polymorphisms (SNPs) in estrogen recept... BeFree 22011627 Detail
<0.001 Mild dementia Significant association was found between ESR1 polymorphisms (rs9340799 [ESR1+35... BeFree 23567436 Detail
0.007 Metabolic syndrome X To investigate genetic single nucleotide polymorphisms (SNPs) in estrogen recept... BeFree 22011627 Detail
0.012 dementia Significant association was found between ESR1 polymorphisms (rs9340799 [ESR1+35... BeFree 23567436 Detail
0.002 Presenile dementia Significant association was found between ESR1 polymorphisms (rs9340799 [ESR1+35... BeFree 23567436 Detail
<0.001 HIV Infections To investigate genetic single nucleotide polymorphisms (SNPs) in estrogen recept... BeFree 22011627 Detail
0.003 Presenile dementia Significant association was found between ESR1 polymorphisms (rs9340799 [ESR1+35... BeFree 23567436 Detail
Annotation

Annotations

DescrptionSourceLinks
We aimed to explore the single-locus, haplotype and epistasis patterns and the contribution of oestr... DisGeNET Detail
We aimed to explore the single-locus, haplotype and epistasis patterns and the contribution of oestr... DisGeNET Detail
When stratified by ER status, ESR1 rs1801132, rs2046210, and rs3020314 showed stronger associations ... DisGeNET Detail
The estrogen receptor alpha C975G variant in familial and sporadic breast cancer: a case-control stu... DisGeNET Detail
Significant association was found between ESR1 polymorphisms (rs9340799 [ESR1+351], rs1801132 [ESR1+... DisGeNET Detail
Significant association was found between ESR1 polymorphisms (rs9340799 [ESR1+351], rs1801132 [ESR1+... DisGeNET Detail
When stratified by ER status, ESR1 rs1801132, rs2046210, and rs3020314 showed stronger associations ... DisGeNET Detail
To investigate genetic single nucleotide polymorphisms (SNPs) in estrogen receptor-α (ERα) (ESR1, rs... DisGeNET Detail
To investigate genetic single nucleotide polymorphisms (SNPs) in estrogen receptor-α (ERα) (ESR1, rs... DisGeNET Detail
Significant association was found between ESR1 polymorphisms (rs9340799 [ESR1+351], rs1801132 [ESR1+... DisGeNET Detail
To investigate genetic single nucleotide polymorphisms (SNPs) in estrogen receptor-α (ERα) (ESR1, rs... DisGeNET Detail
Significant association was found between ESR1 polymorphisms (rs9340799 [ESR1+351], rs1801132 [ESR1+... DisGeNET Detail
Significant association was found between ESR1 polymorphisms (rs9340799 [ESR1+351], rs1801132 [ESR1+... DisGeNET Detail
To investigate genetic single nucleotide polymorphisms (SNPs) in estrogen receptor-α (ERα) (ESR1, rs... DisGeNET Detail
Significant association was found between ESR1 polymorphisms (rs9340799 [ESR1+351], rs1801132 [ESR1+... DisGeNET 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
chr6:151,944,387-151,944,387
Variant Type
snv
Reference Allele
G
Alternative Allele
C
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1180
Mean of sample read depth (HGVD)
98.40
Standard deviation of sample read depth (HGVD)
45.90
Number of reference allele (HGVD)
1190
Number of alternative allele (HGVD)
1167
Allele Frequency (HGVD)
0.49512091641917694
Gene Symbol (HGVD)
ESR1
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs1801132
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4943
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
8285
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8618
East Asian Allele Counts (ExAC)
4396
East Asian Heterozygous Counts (ExAC)
2150
East Asian Homozygous Counts (ExAC)
1123
East Asian Allele Frequency (ExAC)
0.5100951496867022
Chromosome Counts in All Race (ExAC)
121356
Allele Counts in All Race (ExAC)
89342
Heterozygous Counts in All Race (ExAC)
22072
Homozygous Counts in All Race (ExAC)
33635
Allele Frequency in All Race (ExAC)
0.7361976334091433
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