Have questions? Visit https://www.reddit.com/r/SNPedia

rs55770810

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 normal
(C;T) 5 carrier of BRCA1 variant likely to be pathogenic
(T;T) 5 carrier of two copies of BRCA1 variant; likely to be at higher risk for breast/ovarian cancer
ReferenceGRCh38 38.1/141
Chromosome17
Position43063931
GeneBRCA1
is asnp
is mentioned by
dbSNPrs55770810
ebirs55770810
HLIrs55770810
Exacrs55770810
Varsomers55770810
Maprs55770810
PheGenIrs55770810
hapmaprs55770810
1000 genomesrs55770810
hgdprs55770810
ensemblrs55770810
gopubmedrs55770810
geneviewrs55770810
scholarrs55770810
googlers55770810
pharmgkbrs55770810
gwascentralrs55770810
openSNPrs55770810
23andMers55770810
23andMe allrs55770810
SNP Nexus

SNPshotrs55770810
SNPdbers55770810
MSV3drs55770810
GWAS Ctlgrs55770810
Max Magnitude5
rs55770810, also known as R1699W, is a SNP in the BRCA1 gene. The more common (C) allele encodes the amino acid arginine (R), while the rare (T) allele encodes a tryptophan (W).

An analysis of sequence variants of unknown clinical significance in the BRCA1 and BRCA2 genes concluded that this SNP was among the top 10 (over both genes) likely to lead to breast cancer, with a calculated odds of over 1,000:1 against this just being a spurious association. Although the clinical importance has not been proven, this may still be of use for genetic counseling.[PMID 17924331OA-icon.png]

This SNP is also represented on some 23andMe microarrays as i5010082.


ClinVar
Risk rs55770810(A,T;A,T)
Alt rs55770810(A,T;A,T)
Reference rs55770810(C;C)
Significance Pathogenic
Disease Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome Breast and colorectal cancer not provided Fanconi anemia Ovarian cancer Familial cancer of breast
Variation info
Gene BRCA1
CLNDBN Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome Breast and colorectal cancer not provided Fanconi anemia, complementation group A Ovarian cancer Familial cancer of breast
Reversed 1
HGVS NC_000017.10:g.41215948G>A; NC_000017.10:g.41215948G>T
CLNSRC Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation
CLNACC RCV000048789.5, RCV000077595.5, RCV000131821.2, RCV000148390.1, RCV000159999.2, RCV000191041.1, RCV000239322.1, RCV000048788.2, RCV000165701.1,