chr15:51534995:A>G Detail (hg19) (CYP19A1, PIRC66, MIR4713HG)

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

Information

Genome

Assembly	Position
hg19	chr15:51,534,995-51,534,995
hg38	chr15:51,242,798-51,242,798 View the variant detail on this assembly version.

HGVS

CYP19A1

Type	Transcript	Protein
RefSeq	NM_000103.3:c.115T>C	NP_000094.2:p.Trp39Arg
	NM_031226.2:c.115T>C	NP_112503.1:p.Trp39Arg
Ensemble	ENST00000396402.6:c.115T>C	ENST00000396402.6:p.Trp39Arg
	ENST00000559878.5:c.115T>C	ENST00000559878.5:p.Trp39Arg
	ENST00000405913.7:c.115T>C	ENST00000405913.7:p.Trp39Arg
	ENST00000396404.8:c.115T>C	ENST00000396404.8:p.Trp39Arg
	ENST00000557858.5:c.115T>C	ENST00000557858.5:p.Trp39Arg

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:0.041
	ToMMo:0.041
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:0.046

Prediction

ClinVar

Clinical Significance	Benign Likely benign
Review star
Show details

Links

CYP19A1

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	tgv52937680	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Likely benign	2017-04-27	criteria provided, single submitter	Aromatase deficiency	germline	Detail
Benign	2024-02-01	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.033	breast carcinoma	Pairwise analysis showed that combinations of the ERalpha G allele with the homo...	BeFree	18820009	Detail
0.240	Malignant neoplasm of breast	Pairwise analysis showed that combinations of the ERalpha G allele with the homo...	BeFree	18820009	Detail
0.080	breast carcinoma	Pairwise analysis showed that combinations of the ERalpha G allele with the homo...	BeFree	18820009	Detail
0.033	breast carcinoma	CYP17 (T-34C) and CYP19 (Trp39Arg) polymorphisms and their cooperative effects o...	BeFree	20133979	Detail
0.230	Malignant neoplasm of breast	CYP17 (T34C), CYP19 (Trp39Arg), and FGFR2 (C906T) polymorphisms and the risk of ...	BeFree	19469636	Detail
0.097	Malignant neoplasm of breast	CYP17 (T34C), CYP19 (Trp39Arg), and FGFR2 (C906T) polymorphisms and the risk of ...	BeFree	19469636	Detail
0.017	breast carcinoma	CYP17 (T34C), CYP19 (Trp39Arg), and FGFR2 (C906T) polymorphisms and the risk of ...	BeFree	19469636	Detail
0.017	breast carcinoma	CYP17 (T-34C) and CYP19 (Trp39Arg) polymorphisms and their cooperative effects o...	BeFree	20133979	Detail
0.033	breast carcinoma	The CYP19 gene codon 39 Trp/Arg polymorphism increases breast cancer risk in sub...	BeFree	15298966	Detail
0.114	Malignant neoplasm of breast	CYP17 (T-34C) and CYP19 (Trp39Arg) polymorphisms and their cooperative effects o...	BeFree	20133979	Detail
0.114	Malignant neoplasm of breast	The CYP19 gene codon 39 Trp/Arg polymorphism increases breast cancer risk in sub...	BeFree	15298966	Detail
0.031	breast carcinoma	CYP17 (T34C), CYP19 (Trp39Arg), and FGFR2 (C906T) polymorphisms and the risk of ...	BeFree	19469636	Detail
0.097	Malignant neoplasm of breast	CYP17 (T-34C) and CYP19 (Trp39Arg) polymorphisms and their cooperative effects o...	BeFree	20133979	Detail
0.033	breast carcinoma	CYP17 (T34C), CYP19 (Trp39Arg), and FGFR2 (C906T) polymorphisms and the risk of ...	BeFree	19469636	Detail
0.114	Malignant neoplasm of breast	CYP17 (T34C), CYP19 (Trp39Arg), and FGFR2 (C906T) polymorphisms and the risk of ...	BeFree	19469636	Detail
0.114	Malignant neoplasm of breast	Pairwise analysis showed that combinations of the ERalpha G allele with the homo...	BeFree	18820009	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000103.4(CYP19A1):c.115T>C (p.Trp39Arg) AND Aromatase deficiency	ClinVar	Detail
NM_000103.4(CYP19A1):c.115T>C (p.Trp39Arg) AND not provided	ClinVar	Detail
Pairwise analysis showed that combinations of the ERalpha G allele with the homozygous Trp genotype ...	DisGeNET	Detail
Pairwise analysis showed that combinations of the ERalpha G allele with the homozygous Trp genotype ...	DisGeNET	Detail
Pairwise analysis showed that combinations of the ERalpha G allele with the homozygous Trp genotype ...	DisGeNET	Detail
CYP17 (T-34C) and CYP19 (Trp39Arg) polymorphisms and their cooperative effects on breast cancer susc...	DisGeNET	Detail
CYP17 (T34C), CYP19 (Trp39Arg), and FGFR2 (C906T) polymorphisms and the risk of breast cancer in sou...	DisGeNET	Detail
CYP17 (T34C), CYP19 (Trp39Arg), and FGFR2 (C906T) polymorphisms and the risk of breast cancer in sou...	DisGeNET	Detail
CYP17 (T34C), CYP19 (Trp39Arg), and FGFR2 (C906T) polymorphisms and the risk of breast cancer in sou...	DisGeNET	Detail
CYP17 (T-34C) and CYP19 (Trp39Arg) polymorphisms and their cooperative effects on breast cancer susc...	DisGeNET	Detail
The CYP19 gene codon 39 Trp/Arg polymorphism increases breast cancer risk in subsets of premenopausa...	DisGeNET	Detail
CYP17 (T-34C) and CYP19 (Trp39Arg) polymorphisms and their cooperative effects on breast cancer susc...	DisGeNET	Detail
The CYP19 gene codon 39 Trp/Arg polymorphism increases breast cancer risk in subsets of premenopausa...	DisGeNET	Detail
CYP17 (T34C), CYP19 (Trp39Arg), and FGFR2 (C906T) polymorphisms and the risk of breast cancer in sou...	DisGeNET	Detail
CYP17 (T-34C) and CYP19 (Trp39Arg) polymorphisms and their cooperative effects on breast cancer susc...	DisGeNET	Detail
CYP17 (T34C), CYP19 (Trp39Arg), and FGFR2 (C906T) polymorphisms and the risk of breast cancer in sou...	DisGeNET	Detail
CYP17 (T34C), CYP19 (Trp39Arg), and FGFR2 (C906T) polymorphisms and the risk of breast cancer in sou...	DisGeNET	Detail
Pairwise analysis showed that combinations of the ERalpha G allele with the homozygous Trp genotype ...	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: rs2236722 dbSNP
Genome: hg19
Position: chr15:51,534,995-51,534,995
Variant Type: snv
Reference Allele: A
Alternative Allele: G
Filtering Status (HGVD): PASS
# of samples (HGVD): 1206
Mean of sample read depth (HGVD): 45.50
Standard deviation of sample read depth (HGVD): 23.39
Number of reference allele (HGVD): 2313
Number of alternative allele (HGVD): 99
Allele Frequency (HGVD): 0.041044776119402986
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)): rs2236722
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 0.0405
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 678
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 16760
East Asian Chromosome Counts (ExAC): 8634
East Asian Allele Counts (ExAC): 396
East Asian Heterozygous Counts (ExAC): 376
East Asian Homozygous Counts (ExAC): 10
East Asian Allele Frequency (ExAC): 0.04586518415566365
Chromosome Counts in All Race (ExAC): 121302
Allele Counts in All Race (ExAC): 397
Heterozygous Counts in All Race (ExAC): 377
Homozygous Counts in All Race (ExAC): 10
Allele Frequency in All Race (ExAC): 0.0032728232015960166

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