chr14:64233327:T>C Detail (hg38) (ESR2)

Information

Genome

Assembly Position
hg19 chr14:64,700,045-64,700,045 View the variant detail on this assembly version.
hg38 chr14:64,233,327-64,233,327

HGVS

Type Transcript Protein
RefSeq NM_001271877.1:c.1134-4A>G
NM_001437.2:c.1407-4A>G
NM_001040275.1:c.1406+1643A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.357
ToMMo:0.353
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.468

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 601663 OMIM
HGNC 3468 HGNC
Ensembl ENSG00000140009 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv51068706 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2024-01-29 criteria provided, multiple submitters, no conflicts not provided germline Detail
Benign 2019-02-22 criteria provided, single submitter ESR2-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.002 endometrial carcinoma Our data suggest that the ESR1 (rs2234693 and rs9340799) and the ESR2 (rs1255998... BeFree 19438492 Detail
0.002 Malignant neoplasm of endometrium Our data suggest that the ESR1 (rs2234693 and rs9340799) and the ESR2 (rs1255998... BeFree 19438492 Detail
0.002 uterine corpus cancer Our data suggest that the ESR1 (rs2234693 and rs9340799) and the ESR2 (rs1255998... BeFree 19438492 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001437.3(ESR2):c.1407-4A>G AND not provided ClinVar Detail
NM_001437.3(ESR2):c.1407-4A>G AND ESR2-related disorder ClinVar Detail
Our data suggest that the ESR1 (rs2234693 and rs9340799) and the ESR2 (rs1255998 and rs944050) polym... DisGeNET Detail
Our data suggest that the ESR1 (rs2234693 and rs9340799) and the ESR2 (rs1255998 and rs944050) polym... DisGeNET Detail
Our data suggest that the ESR1 (rs2234693 and rs9340799) and the ESR2 (rs1255998 and rs944050) polym... 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
-
dbSNP
rs944050 dbSNP
Genome
hg38
Position
chr14:64,233,327-64,233,327
Variant Type
snv
Reference Allele
T
Alternative Allele
C
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1210
Mean of sample read depth (HGVD)
104.96
Standard deviation of sample read depth (HGVD)
51.22
Number of reference allele (HGVD)
1555
Number of alternative allele (HGVD)
865
Allele Frequency (HGVD)
0.3574380165289256
Gene Symbol (HGVD)
ESR2
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))
rs944050
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.3526
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
5909
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8632
East Asian Allele Counts (ExAC)
4043
East Asian Heterozygous Counts (ExAC)
2127
East Asian Homozygous Counts (ExAC)
958
East Asian Allele Frequency (ExAC)
0.4683734939759036
Chromosome Counts in All Race (ExAC)
119880
Allele Counts in All Race (ExAC)
10984
Heterozygous Counts in All Race (ExAC)
8318
Homozygous Counts in All Race (ExAC)
1333
Allele Frequency in All Race (ExAC)
0.09162495829162495
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