chr15:51502844:A>C Detail (hg19) (CYP19A1, PIRC66, MIR4713HG)

Information

Genome

Assembly Position
hg19 chr15:51,502,844-51,502,844
hg38 chr15:51,210,647-51,210,647 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_031226.2:c.*161T>G
NM_000103.3:c.*161T>G
Ensemble ENST00000396404.8:c.*161T>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.722
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.707

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 107910 OMIM
HGNC 2594 HGNC
Ensembl ENSG00000137869 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv52936708 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2018-01-13 criteria provided, single submitter Aromatase deficiency germline Detail
Benign 2018-06-26 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.080 breast carcinoma SNPs rs10046 and rs4646 may influence the HER2 status of breast cancer tumors, a... BeFree 18049890 Detail
0.240 Malignant neoplasm of breast SNPs rs10046 and rs4646 may influence the HER2 status of breast cancer tumors, a... BeFree 18049890 Detail
<0.001 Impaired cognition We analyzed the role of 3 CYP19 single-nucleotide polymorphisms (rs12907866, rs1... BeFree 19478482 Detail
0.033 breast carcinoma The present study indicates that CYP19 rs4646 polymorphism is related to DFS in ... BeFree 25793413 Detail
0.114 Malignant neoplasm of breast The present study indicates that CYP19 rs4646 polymorphism is related to DFS in ... BeFree 25793413 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000103.4(CYP19A1):c.*161T>G AND Aromatase deficiency ClinVar Detail
NM_000103.4(CYP19A1):c.*161T>G AND not provided ClinVar Detail
SNPs rs10046 and rs4646 may influence the HER2 status of breast cancer tumors, and rs10046 genotypes... DisGeNET Detail
SNPs rs10046 and rs4646 may influence the HER2 status of breast cancer tumors, and rs10046 genotypes... DisGeNET Detail
We analyzed the role of 3 CYP19 single-nucleotide polymorphisms (rs12907866, rs17601241, rs4646) in ... DisGeNET Detail
The present study indicates that CYP19 rs4646 polymorphism is related to DFS in early breast cancer ... DisGeNET Detail
The present study indicates that CYP19 rs4646 polymorphism is related to DFS in early breast cancer ... 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
rs4646 dbSNP
Genome
hg19
Position
chr15:51,502,844-51,502,844
Variant Type
snv
Reference Allele
A
Alternative Allele
C
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))
rs4646
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.7216
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
12094
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
5894
East Asian Allele Counts (ExAC)
4167
East Asian Heterozygous Counts (ExAC)
1429
East Asian Homozygous Counts (ExAC)
1369
East Asian Allele Frequency (ExAC)
0.7069901594842213
Chromosome Counts in All Race (ExAC)
94668
Allele Counts in All Race (ExAC)
67418
Heterozygous Counts in All Race (ExAC)
21398
Homozygous Counts in All Race (ExAC)
23010
Allele Frequency in All Race (ExAC)
0.7121519415219504
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