rs587778134
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(;) | 0 | common in clinvar |
(-;-) | 0 | common/normal |
(-;TT) | 6 | Ovarian cancer susceptibility |
Make rs587778134(TT;TT) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 17 |
Position | 61776458 |
Gene | BRIP1 |
is a | snp |
is | mentioned by |
dbSNP | rs587778134 |
dbSNP (classic) | rs587778134 |
ClinGen | rs587778134 |
ebi | rs587778134 |
HLI | rs587778134 |
Exac | rs587778134 |
Gnomad | rs587778134 |
Varsome | rs587778134 |
LitVar | rs587778134 |
Map | rs587778134 |
PheGenI | rs587778134 |
Biobank | rs587778134 |
1000 genomes | rs587778134 |
hgdp | rs587778134 |
ensembl | rs587778134 |
geneview | rs587778134 |
scholar | rs587778134 |
rs587778134 | |
pharmgkb | rs587778134 |
gwascentral | rs587778134 |
openSNP | rs587778134 |
23andMe | rs587778134 |
SNPshot | rs587778134 |
SNPdbe | rs587778134 |
MSV3d | rs587778134 |
GWAS Ctlg | rs587778134 |
Max Magnitude | 6 |
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 Fanconi anemia Neoplasm of ovary Familial cancer of breast |
Variation | info |
Gene | BRIP1 |
CLNDBN | Hereditary cancer-predisposing syndrome not specified not provided Fanconi anemia, complementation group J Neoplasm of ovary Familial cancer of breast |
Reversed | 1 |
HGVS | NC_000017.10:g.59853820_59853821dupAA |
CLNSRC | |
CLNACC | RCV000116134.7, RCV000120393.1, RCV000213084.1, RCV000409330.1, RCV000409984.1, RCV000469530.1, |