NM_000103.4(CYP19A1):c.*161T>G AND doxorubicin response - Efficacy - ClinVar

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NM_000103.4(CYP19A1):c.*161T>G AND doxorubicin response - Efficacy

Germline classification:: drug response (1 submission)
Last evaluated:: Feb 6, 2018
Review status:: 3 stars out of maximum of 4 stars
reviewed by expert panel

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000660836.2

Allele description

NM_000103.4(CYP19A1):c.*161T>G

Genes:

MIR4713HG:MIR4713 host gene [Gene - HGNC]
CYP19A1:cytochrome P450 family 19 subfamily A member 1 [Gene - OMIM - HGNC]
PIRC66:piwi-interacting RNA cluster 66 [Gene - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q21.2

Genomic location:

Preferred name:

NM_000103.4(CYP19A1):c.*161T>G

HGVS:

NC_000015.10:g.51210647A>C
NG_007982.1:g.132952T>G
NM_000103.4:c.*161T>GMANE SELECT
NM_001347248.1:c.*161T>G
NM_001347249.2:c.*161T>G
NM_001347250.2:c.*161T>G
NM_001347251.2:c.*161T>G
NM_001347252.2:c.*161T>G
NM_001347253.2:c.*161T>G
NM_001347254.2:c.*161T>G
NM_001347255.2:c.*161T>G
NM_001347256.2:c.*161T>G
NM_031226.3:c.*161T>G
NC_000015.9:g.51502844A>C
NM_031226.2:c.*161T>G

Links:

PharmGKB: 1446897383PA128406956; PharmGKB: 1446897383PA166122986; PharmGKB: 1446897383PA448432; PharmGKB: 1446897383PA449165; PharmGKB: 1446897383PA449383; PharmGKB: 1446897383PA449412; PharmGKB: 1446897383PA449476; PharmGKB: 1446897383PA449563; PharmGKB: 1446897383PA450761; PharmGKB: 1446897383PA451581; dbSNP: rs4646

NCBI 1000 Genomes Browser:

rs4646

Molecular consequence:

NM_000103.4:c.*161T>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001347248.1:c.*161T>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001347249.2:c.*161T>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001347250.2:c.*161T>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001347251.2:c.*161T>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001347252.2:c.*161T>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001347253.2:c.*161T>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001347254.2:c.*161T>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001347255.2:c.*161T>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001347256.2:c.*161T>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_031226.3:c.*161T>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

Condition(s)

Name:: doxorubicin response - Efficacy
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000783075	PharmGKB	reviewed by expert panel (Pharmacogenomics knowledge for personalized medicine)	drug response (Feb 6, 2018) Condition: doxorubicin response - Efficacy Drug reported used for: Breast Neoplasms	germline	curation	PubMed (3) [See all records that cite these PMIDs] 25793413, 26191232, 22992668 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000783075

PharmGKB

reviewed by expert panel

(Pharmacogenomics knowledge for personalized medicine)

drug response
(Feb 6, 2018)
Condition: doxorubicin response - Efficacy
Drug reported used for: Breast Neoplasms

germline

curation

PubMed (3)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	curation

Citations

PubMed

The CYP19 RS4646 polymorphism IS related to the prognosis of stage I-II and operable stage III breast cancer.

Shao X, Guo Y, Xu X, Zheng Y, Wang J, Chen Z, Huang J, Huang P, Cai J, Wang X.

PLoS One. 2015;10(3):e0121535. doi: 10.1371/journal.pone.0121535.

PubMed [citation]

PMID:: 25793413
PMCID:: PMC4368615

S4646 polymorphism in CYP19A1 gene is associated with the efficacy of hormone therapy in early breast cancer.

Shao X, Cai J, Zheng Y, Wang J, Feng J, Huang Y, Shi L, Chen Z, Guo Y, Wang X.

Int J Clin Exp Pathol. 2015;8(5):5309-17.

PubMed [citation]

PMID:: 26191232
PMCID:: PMC4503103

See all PubMed Citations (3)

Details of each submission

From PharmGKB, SCV000783075.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	curation	PubMed (3)

Description

PharmGKB Level of Evidence 2B: Annotation for a variant-drug combination with moderate evidence of an association. The association must be replicated but there may be some studies that do not show statistical significance, and/or the effect size may be small.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 29, 2021

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