rs730881649

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(-;AA)	6	Increased cancer risk; ovarian cancer & related
(AA;AA)	0	common in clinvar

Make rs730881649(-;-)

Reference

GRCh38.p2 38.2/144

Chromosome

17

Position

61744433

Gene

BRIP1

is a	snp
is	mentioned by
dbSNP	rs730881649
dbSNP (classic)	rs730881649
ClinGen	rs730881649
ebi	rs730881649
HLI	rs730881649
Exac	rs730881649
Gnomad	rs730881649
Varsome	rs730881649
LitVar	rs730881649
Map	rs730881649
PheGenI	rs730881649
Biobank	rs730881649
1000 genomes	rs730881649
hgdp	rs730881649
ensembl	rs730881649
geneview	rs730881649
scholar	rs730881649
google	rs730881649
pharmgkb	rs730881649
gwascentral	rs730881649
openSNP	rs730881649
23andMe	rs730881649
SNPshot	rs730881649
SNPdbe	rs730881649
MSV3d	rs730881649
GWAS Ctlg	rs730881649

Max Magnitude

6

aka c.2255_2256delAA (p.Lys752Argfs)

One submitter to ClinVar has annotated this variant as pathogenic for a hereditary cancer predisposition.

ClinVar
Risk	rs730881649(-;-)
Alt	rs730881649(-;-)
Reference	Rs730881649(AA;AA)
Significance	Pathogenic
Disease	Hereditary cancer-predisposing syndrome Familial cancer of breast Fanconi anemia not provided
Variation	info
Gene	BRIP1
CLNDBN	Hereditary cancer-predisposing syndrome Familial cancer of breast Fanconi anemia, complementation group J not provided
Reversed	1
HGVS	NC_000017.10:g.59821794_59821795delTT
CLNSRC	Inc.
CLNACC	RCV000160364.5, RCV000167986.3, RCV000212320.3,