rs587778134

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
google	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,