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rs1799950

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 normal breast cancer risk
(A;G) 1.5 very slightly increased breast cancer risk
(G;G) 2 very slightly increased breast cancer risk
ReferenceGRCh38 38.1/141
Chromosome17
Position43094464
GeneBRCA1
is asnp
is mentioned by
dbSNPrs1799950
ebirs1799950
HLIrs1799950
Exacrs1799950
Varsomers1799950
Maprs1799950
PheGenIrs1799950
hapmaprs1799950
1000 genomesrs1799950
hgdprs1799950
ensemblrs1799950
gopubmedrs1799950
geneviewrs1799950
scholarrs1799950
googlers1799950
pharmgkbrs1799950
gwascentralrs1799950
openSNPrs1799950
23andMers1799950
23andMe allrs1799950
SNP Nexus

SNPshotrs1799950
SNPdbers1799950
MSV3drs1799950
GWAS Ctlgrs1799950
GMAF0.02801
Max Magnitude2
? (A;A) (A;G) (G;G) 28
This SNP, a variant in the BRCA1 gene, is 1 of 25 SNPs reported to represent independently minor, but cumulatively significant, increased risk for breast cancer. [PMID 17341484]

For details of all 25 SNPs in this group, along with the two methods used to calculate overall risk estimates for breast cancer, refer to the SNPedia breast cancer entry.

This particular SNP, rs1799950, was actually the only SNP of the 25 to have an increased odds ratio for breast cancer to be over 1.5 in carriers and to also be present at a minor allele frequency of over 5%. The odds ratio calculated was 1.72 (P = 0.0002). The risk (minor) allele is (G).

The orientation has been changed to minus manually. We'll see what the bots do to it, with the next major update.


[PMID 22144497OA-icon.png] Assessing the clinical role of genetic markers of early-onset prostate cancer among high-risk men enrolled in prostate cancer early detection


ClinVar
Risk rs1799950(G;G)
Alt rs1799950(G;G)
Reference rs1799950(A;A)
Significance Non-pathogenic
Disease not provided Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer not specified Hereditary cancer-predisposing syndrome Ductal breast carcinoma
Variation info
Gene BRCA1
CLNDBN not provided Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1 not specified Hereditary cancer-predisposing syndrome Ductal breast carcinoma
Reversed 1
HGVS NC_000017.10:g.41246481T>C
CLNSRC Inc. Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation HGMD
CLNACC RCV000034725.3, RCV000047326.4, RCV000111539.7, RCV000120281.5, RCV000132455.4, RCV000207264.1,



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


[PMID 17428325OA-icon.png] Common variants in the ATM, BRCA1, BRCA2, CHEK2 and TP53 cancer susceptibility genes are unlikely to increase breast cancer risk.


[PMID 18701471OA-icon.png] Chromosome 17q12 variants contribute to risk of early-onset prostate cancer.


[PMID 20039378OA-icon.png] Estimation of genotype relative risks from pedigree data by retrospective likelihoods.


GET Evidence
BRCA1-Q356R
aa_change Gln356Arg
aa_change_short Q356R
impact benign
qualified_impact Low clinical importance, Uncertain benign
overall_frequency 0.0462911
summary One common variant associated this variant with an increased risk of breast cancer, but a more recent, larger study found no association.