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rs41293459

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common/normal
(C;T) 2 increased risk for breast cancer
(G;G) 0 common in clinvar
Make rs41293459(T;T)
ReferenceGRCh38 38.1/142
Chromosome17
Position43063930
GeneBRCA1
is asnp
is mentioned by
dbSNPrs41293459
ebirs41293459
HLIrs41293459
Exacrs41293459
Varsomers41293459
Maprs41293459
PheGenIrs41293459
hapmaprs41293459
1000 genomesrs41293459
hgdprs41293459
ensemblrs41293459
gopubmedrs41293459
geneviewrs41293459
scholarrs41293459
googlers41293459
pharmgkbrs41293459
gwascentralrs41293459
openSNPrs41293459
23andMers41293459
23andMe allrs41293459
SNP Nexus

SNPshotrs41293459
SNPdbers41293459
MSV3drs41293459
GWAS Ctlgrs41293459
Max Magnitude2
rs41293459, also known as R1699Q, is a SNP in the BRCA1 gene. The more common (C) allele (on the dbSNP forward strand) encodes the amino acid arginine (R), while the rare (T) allele encodes glutamine (Q).

Note: dbSNP flipped the orientation of this SNP from the reverse strand (in assembly GRCh37) to the forward strand (in assembly GRCh38), so be wary of potential strand/allele confusion.

An analysis of 68 families with breast cancer and this R1699Q mutation indicated that it is associated with intermediate risk of breast and ovarian cancer. To put it another way, it's not as bad as the classic BRCA1 mutations, but it's not benign either; the estimated cumulative risks of developing breast cancer or ovarian cancer by age 70 for R1699Q carriers is 24%.[PMID 22889855OA-icon.png]


ClinVar
Risk rs41293459(A,C,T;A,C,T)
Alt rs41293459(A,C,T;A,C,T)
Reference rs41293459(G;G)
Significance Other
Disease Familial cancer of breast Breast-ovarian cancer not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1 not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Reversed 1
HGVS NC_000017.10:g.41215947C>A; NC_000017.10:g.41215947C>G; NC_000017.10:g.41215947C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000048792.2, RCV000112497.1, RCV000048791.2, RCV000112496.1, RCV000031217.11, RCV000048790.5, RCV000131564.2, RCV000195350.3,