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rs1800709

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 normal
(C;T) possible predisposition to breast cancer
(G;G) 0
(T;T) 2 predisposition to breast cancer?
ReferenceGRCh38 38.1/142
Chromosome17
Position43093010
GeneBRCA1
is asnp
is mentioned by
dbSNPrs1800709
ebirs1800709
HLIrs1800709
Exacrs1800709
Varsomers1800709
Maprs1800709
PheGenIrs1800709
hapmaprs1800709
1000 genomesrs1800709
hgdprs1800709
ensemblrs1800709
gopubmedrs1800709
geneviewrs1800709
scholarrs1800709
googlers1800709
pharmgkbrs1800709
gwascentralrs1800709
openSNPrs1800709
23andMers1800709
23andMe allrs1800709
SNP Nexus

SNPshotrs1800709
SNPdbers1800709
MSV3drs1800709
GWAS Ctlgrs1800709
GMAF0.001377
Max Magnitude2
? (C;C) (C;T) (T;T) 28
rs41293463 is a SNP causing an amino acid change in the breast cancer 1 BRCA1 gene at amino position 841. The more common rs41293463(C) allele encodes Arg, while the rare rs41293463(T) allele encodes Trp; this SNP is also known as R841W.

A 1996 study of 305 cases in Southern California of breast cancer and ovarian cancer found 3 cases carrying the rs1800709(T) allele. In all three cases, there was a strong family history of breast, ovarian, or other cancers, and family members showed a high concordance of cancer incidence with the presence of this SNP. However, the age of cancer onset was the same as for sporadic cases. The authors conclude that this SNP may explain around 1% (CI: 0-1.7%) of all breast and ovarian cancers, at least for this population. [PMID 8968716]

Note: this SNP is rather unlikely to be a causative or high penetrance mutation, given it's frequency in the population at large.

Neighborrs4986852
Distance598
Neighborrs4986850
Distance444
Neighborrs799917
Distance91
OMIM113705
Desc
Variant0022
Relatedalso


ClinVar
Risk rs1800709(T;T)
Alt rs1800709(T;T)
Reference rs1800709(C;C)
Significance Other
Disease Breast-ovarian cancer not provided Hereditary breast and ovarian cancer syndrome not specified Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 not provided Hereditary breast and ovarian cancer syndrome not specified Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000017.10:g.41245027G>A
CLNSRC Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation OMIM Allelic Variant
CLNACC RCV000019251.10, RCV000034733.3, RCV000047867.5, RCV000120283.3, RCV000162566.1,