chr15:51502986:G>A Detail (hg19) (CYP19A1, PIRC66, MIR4713HG)

Information

Genome

Assembly Position
hg19 chr15:51,502,986-51,502,986
hg38 chr15:51,210,789-51,210,789 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_031226.2:c.*19C>T
NM_000103.3:c.*19C>T
Ensemble ENST00000396404.8:c.*19C>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.458
ToMMo:0.434
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.517

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 tgv52936728 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2018-03-06 criteria provided, single submitter Aromatase deficiency germline Detail
Benign 2024-01-22 criteria provided, multiple submitters, no conflicts not provided germline Detail
Benign no assertion criteria provided not specified germline Detail
Benign 2021-07-01 criteria provided, single submitter aromatase excess syndrome germline Detail
drug response 2023-05-01 no assertion criteria provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.033 breast carcinoma Associations between aromatase CYP19 rs10046 polymorphism and breast cancer risk... BeFree 23342035 Detail
0.033 breast carcinoma We did not observe an association between potential functional genetic polymorph... BeFree 23935996 Detail
0.114 Malignant neoplasm of breast We did not observe an association between potential functional genetic polymorph... BeFree 23935996 Detail
0.007 prostate carcinoma The combination of the TTTA long repeats and the minor alleles of rs10046 in CYP... BeFree 19952760 Detail
0.004 breast carcinoma We did not observe an association between potential functional genetic polymorph... BeFree 23935996 Detail
0.080 breast carcinoma We did not observe an association between potential functional genetic polymorph... BeFree 23935996 Detail
0.248 endometriosis Patients with endometriosis (n = 150) and fertile controls (n = 199) were genoty... BeFree 20586553 Detail
0.080 breast carcinoma SNPs rs10046 and rs4646 may influence the HER2 status of breast cancer tumors, a... BeFree 18049890 Detail
0.114 Malignant neoplasm of breast Associations between aromatase CYP19 rs10046 polymorphism and breast cancer risk... BeFree 23342035 Detail
0.240 Malignant neoplasm of breast SNPs rs10046 and rs4646 may influence the HER2 status of breast cancer tumors, a... BeFree 18049890 Detail
0.028 Malignant neoplasm of breast We did not observe an association between potential functional genetic polymorph... BeFree 23935996 Detail
0.033 breast carcinoma Analysis of the rs10046 polymorphism of aromatase (CYP19) in premenopausal onset... BeFree 24402127 Detail
0.061 Malignant neoplasm of prostate The combination of the TTTA long repeats and the minor alleles of rs10046 in CYP... BeFree 19952760 Detail
0.114 Malignant neoplasm of breast Analysis of the rs10046 polymorphism of aromatase (CYP19) in premenopausal onset... BeFree 24402127 Detail
0.024 prostate carcinoma The combination of the TTTA long repeats and the minor alleles of rs10046 in CYP... BeFree 19952760 Detail
0.132 Malignant neoplasm of breast We did not observe an association between potential functional genetic polymorph... BeFree 23935996 Detail
0.240 endometriosis We assessed the CYP17 5'-untranslated region -34 A/G (rs743572) and CYP19 Ex10 +... BeFree 23809139 Detail
0.240 endometriosis Patients with endometriosis (n = 150) and fertile controls (n = 199) were genoty... BeFree 20586553 Detail
0.051 Malignant neoplasm of prostate The combination of the TTTA long repeats and the minor alleles of rs10046 in CYP... BeFree 19952760 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000103.4(CYP19A1):c.*19C>T AND Aromatase deficiency ClinVar Detail
NM_000103.4(CYP19A1):c.*19C>T AND not provided ClinVar Detail
NM_000103.4(CYP19A1):c.*19C>T AND not specified ClinVar Detail
NM_000103.4(CYP19A1):c.*19C>T AND Aromatase excess syndrome ClinVar Detail
NM_000103.4(CYP19A1):c.*19C>T AND Letrozole response ClinVar Detail
Associations between aromatase CYP19 rs10046 polymorphism and breast cancer risk: from a case-contro... DisGeNET Detail
We did not observe an association between potential functional genetic polymorphisms in the estrogen... DisGeNET Detail
We did not observe an association between potential functional genetic polymorphisms in the estrogen... DisGeNET Detail
The combination of the TTTA long repeats and the minor alleles of rs10046 in CYP19A1 and rs2077647 i... DisGeNET Detail
We did not observe an association between potential functional genetic polymorphisms in the estrogen... DisGeNET Detail
We did not observe an association between potential functional genetic polymorphisms in the estrogen... DisGeNET Detail
Patients with endometriosis (n = 150) and fertile controls (n = 199) were genotyped for polymorphism... DisGeNET Detail
SNPs rs10046 and rs4646 may influence the HER2 status of breast cancer tumors, and rs10046 genotypes... DisGeNET Detail
Associations between aromatase CYP19 rs10046 polymorphism and breast cancer risk: from a case-contro... DisGeNET Detail
SNPs rs10046 and rs4646 may influence the HER2 status of breast cancer tumors, and rs10046 genotypes... DisGeNET Detail
We did not observe an association between potential functional genetic polymorphisms in the estrogen... DisGeNET Detail
Analysis of the rs10046 polymorphism of aromatase (CYP19) in premenopausal onset of human breast can... DisGeNET Detail
The combination of the TTTA long repeats and the minor alleles of rs10046 in CYP19A1 and rs2077647 i... DisGeNET Detail
Analysis of the rs10046 polymorphism of aromatase (CYP19) in premenopausal onset of human breast can... DisGeNET Detail
The combination of the TTTA long repeats and the minor alleles of rs10046 in CYP19A1 and rs2077647 i... DisGeNET Detail
We did not observe an association between potential functional genetic polymorphisms in the estrogen... DisGeNET Detail
We assessed the CYP17 5'-untranslated region -34 A/G (rs743572) and CYP19 Ex10 + C1558T (rs10046) SN... DisGeNET Detail
Patients with endometriosis (n = 150) and fertile controls (n = 199) were genotyped for polymorphism... DisGeNET Detail
The combination of the TTTA long repeats and the minor alleles of rs10046 in CYP19A1 and rs2077647 i... 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
rs10046 dbSNP
Genome
hg19
Position
chr15:51,502,986-51,502,986
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Filtering Status (HGVD)
PASS
# of samples (HGVD)
837
Mean of sample read depth (HGVD)
70.53
Standard deviation of sample read depth (HGVD)
34.53
Number of reference allele (HGVD)
907
Number of alternative allele (HGVD)
767
Allele Frequency (HGVD)
0.45818399044205493
Gene Symbol (HGVD)
CYP19A1
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))
rs10046
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.434
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
7274
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8626
East Asian Allele Counts (ExAC)
4457
East Asian Heterozygous Counts (ExAC)
2145
East Asian Homozygous Counts (ExAC)
1156
East Asian Allele Frequency (ExAC)
0.516693716670531
Chromosome Counts in All Race (ExAC)
121312
Allele Counts in All Race (ExAC)
54493
Heterozygous Counts in All Race (ExAC)
28549
Homozygous Counts in All Race (ExAC)
12972
Allele Frequency in All Race (ExAC)
0.44919711158005804
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