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rs169547

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(G;G) 0 common in complete genomics
Make rs169547(A;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position32355250
GeneBRCA2
is asnp
is mentioned by
dbSNPrs169547
ebirs169547
HLIrs169547
Exacrs169547
Varsomers169547
Maprs169547
PheGenIrs169547
hapmaprs169547
1000 genomesrs169547
hgdprs169547
ensemblrs169547
gopubmedrs169547
geneviewrs169547
scholarrs169547
googlers169547
pharmgkbrs169547
gwascentralrs169547
openSNPrs169547
23andMers169547
23andMe allrs169547
SNP Nexus

SNPshotrs169547
SNPdbers169547
MSV3drs169547
GWAS Ctlgrs169547
GMAF0.0225
Max Magnitude0
? (A;A) (A;G) (G;G) 28


Venter snp
Source plos
Gene BRCA2
allele C
frequency 1
sift TOLERATED
HuRef 1103649191238
Disease Association Defects in BRCA2 are a cause of genetic susceptibility to breast cancer (BC) (MIM:600185, 114480). BC is an extremely common malignancy, affecting one in eight women during their lifetime. A positive family history has been identified as major contributor to risk of development of the disease, and this link is striking for early-onset breast cancer. Mutations in BRCA2 are thought to be responsible for some inherited breast cancer. It is linked with male breast cancer.



ClinVar
Risk rs169547(G;G)
Alt rs169547(G;G)
Reference rs169547(A;A)
Significance Non-pathogenic
Disease Familial cancer of breast Breast-ovarian cancer not specified Hereditary breast and ovarian cancer syndrome Ductal breast carcinoma
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2 not specified Hereditary breast and ovarian cancer syndrome Ductal breast carcinoma
Reversed 1
HGVS NC_000013.10:g.32929387T\x3d; NC_000013.10:g.32929387T>C
CLNSRC HGMD
CLNACC RCV000045197.4, RCV000113751.2, RCV000168597.1, RCV000203672.1, RCV000120357.5, RCV000207137.1,



GET Evidence
BRCA2-V2466A
aa_change Val2466Ala
aa_change_short V2466A
impact benign
qualified_impact Insufficiently evaluated benign
overall_frequency 0.977404
summary The valine variant was associated with ovarian cancer in one patient, but was later reported as a benign polymorphism in the Yoruba population.