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rs799917

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 0 very likely to be a benign BRCA1 variant
Make rs799917(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092919
GeneBRCA1
is asnp
is mentioned by
dbSNPrs799917
ebirs799917
HLIrs799917
Exacrs799917
Varsomers799917
Maprs799917
PheGenIrs799917
hapmaprs799917
1000 genomesrs799917
hgdprs799917
ensemblrs799917
gopubmedrs799917
geneviewrs799917
scholarrs799917
googlers799917
pharmgkbrs799917
gwascentralrs799917
openSNPrs799917
23andMers799917
23andMe allrs799917
SNP Nexus

SNPshotrs799917
SNPdbers799917
MSV3drs799917
GWAS Ctlgrs799917
GMAF0.483
Max Magnitude0
? (C;C) (C;T) (T;T) 28


Venter snp
Source plos
Gene BRCA1
allele A
frequency 0.358
sift TOLERATED
HuRef 1103645327484
Disease Association Defects in BRCA1 are a cause of genetic susceptibility to ovarian cancer (MIM:113705).



Neighborrs4986852
Distance507
Neighborrs1800709
Distance91
[PMID 20332227OA-icon.png] Single-Nucleotide Polymorphisms Inside MicroRNA Target Sites Influence Tumor Susceptibility


[PMID 19672706] Polymorphisms in the BRCA1 and ABCB1 genes modulate menopausal hormone therapy associated breast cancer risk in postmenopausal women


ClinVar
Risk rs799917(A,G,T;A,G,T)
Alt rs799917(A,G,T;A,G,T)
Reference rs799917(C;C)
Significance Probable-non-pathogenic
Disease not provided Breast-ovarian cancer Familial cancer of breast not specified Hereditary cancer-predisposing syndrome Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene BRCA1
CLNDBN not provided Breast-ovarian cancer, familial 1 Familial cancer of breast not specified Hereditary cancer-predisposing syndrome Tumor susceptibility linked to germline BAP1 mutations
Reversed 1
HGVS NC_000017.10:g.41244936G>A; NC_000017.10:g.41244936G>C; NC_000017.10:g.41244936G>T
CLNSRC Inc. Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation HGMD
CLNACC RCV000034735.3, RCV000111903.5, RCV000114986.2, RCV000120285.4, RCV000132149.3, RCV000077111.2, RCV000221093.1, RCV000047899.2, RCV000111902.1,



[PMID 15743496OA-icon.png] Haplotype analysis of common variants in the BRCA1 gene and risk of sporadic breast cancer.


[PMID 16111488OA-icon.png] Phosphorylation states of cell cycle and DNA repair proteins can be altered by the nsSNPs.


[PMID 18559551] Pathway analysis of single-nucleotide polymorphisms potentially associated with glioblastoma multiforme susceptibility using random forests.


[PMID 18937358OA-icon.png] Characteristics of a spina bifida population including North American Caucasian and Hispanic individuals.


[PMID 19276285OA-icon.png] Associations between single nucleotide polymorphisms in double-stranded DNA repair pathway genes and familial breast cancer.


[PMID 19482343] Polymorphisms in HPV E6/E7 protein interacted genes and risk of cervical cancer in Chinese women: a case-control analysis.


[PMID 19484476] Polymorphisms in BRCA1, BRCA1-interacting genes and susceptibility of breast cancer in Chinese women.


[PMID 19644020OA-icon.png] Genotyping of frequent BRCA1/2 SNPs with unlabeled probes: a supplement to HRMCA mutation scanning, allowing the strong reduction of sequencing burden.


[PMID 20003265OA-icon.png] Extent of differential allelic expression of candidate breast cancer genes is similar in blood and breast.


GET Evidence
BRCA1-P871L
aa_change Pro871Leu
aa_change_short P871L
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.495724
summary



[PMID 23964347OA-icon.png] Assessment of the Prognostic Value of Two Common Variants of BRCA1 and BRCA2 Genes in Ovarian Cancer Patients Treated with Cisplatin and Paclitaxel: A Gynecologic Oncology Group Study


[PMID 23619945OA-icon.png] Polymorphisms in DNA repair pathway genes, body mass index, and risk of non-Hodgkin lymphoma.


[PMID 23749772] A functional BRCA1 coding sequence genetic variant contributes to risk of esophageal squamous cell carcinoma.


[PMID 27221928] The rs61764370 Functional Variant in the KRAS Oncogene is Associated with Chronic Myeloid Leukemia Risk in Women.