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rs587778134

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;-) 0 common/normal
(-;TT) 5 ~8x higher risk for ovarian cancer
Make rs587778134(TT;TT)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position61776458
GeneBRIP1
is asnp
is mentioned by
dbSNPrs587778134
ebirs587778134
HLIrs587778134
Exacrs587778134
Varsomers587778134
Maprs587778134
PheGenIrs587778134
hapmaprs587778134
1000 genomesrs587778134
hgdprs587778134
ensemblrs587778134
gopubmedrs587778134
geneviewrs587778134
scholarrs587778134
googlers587778134
pharmgkbrs587778134
gwascentralrs587778134
openSNPrs587778134
23andMers587778134
23andMe allrs587778134
SNP Nexus

SNPshotrs587778134
SNPdbers587778134
MSV3drs587778134
GWAS Ctlgrs587778134
Max Magnitude5

rs587778134, also known as c.2040_2041insTT, c.2038_2039dupTT and p.Leu680Phefs, represents a rare mutation in the BRIP1 gene on chromosome 17.

Following SNP discovery through full genome sequencing of 457 Icelanders, analysis of 656 patients with ovarian cancer led to the discovery of the association of the rare rs587778134(TT) allele with increased risk (for ovarian cancer). The odds ratio was reported as 8.13 (p = 2.8 × 10e−14). The mutation was also associated with increased risk of cancer in general and an overall reduced average lifespan of 3.6 years.[PMID 21964575]


ClinVar
Risk rs587778134(TT;TT)
Alt rs587778134(TT;TT)
Reference rs587778134(;)
Significance Pathogenic
Disease Hereditary cancer-predisposing syndrome not specified not provided
Variation info
Gene BRIP1
CLNDBN Hereditary cancer-predisposing syndrome not specified not provided
Reversed 1
HGVS NC_000017.10:g.59853820_59853821dupAA
CLNSRC
CLNACC RCV000116134.6, RCV000120393.1, RCV000213084.1,