rs80357727

minus

Geno	Mag	Summary
(-;AG)	6	BRCA1 variant considered pathogenic for breast cancer
(AG;AG)	0	common in clinvar

Make rs80357727(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43091489

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357727
dbSNP (classic)	rs80357727
ClinGen	rs80357727
ebi	rs80357727
HLI	rs80357727
Exac	rs80357727
Gnomad	rs80357727
Varsome	rs80357727
LitVar	rs80357727
Map	rs80357727
PheGenI	rs80357727
Biobank	rs80357727
1000 genomes	rs80357727
hgdp	rs80357727
ensembl	rs80357727
geneview	rs80357727
scholar	rs80357727
google	rs80357727
pharmgkb	rs80357727
gwascentral	rs80357727
openSNP	rs80357727
23andMe	rs80357727
SNPshot	rs80357727
SNPdbe	rs80357727
MSV3d	rs80357727
GWAS Ctlg	rs80357727

Max Magnitude

6

rs80357727, also known as c.4039_4040delAG, 4160delAG, c.4041_4042delAG and p.Arg1347_Gly1348ArgAsnfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357727(-;-)
Alt	rs80357727(-;-)
Reference	Rs80357727(AG;AG)
Significance	Pathogenic
Disease	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided not specified
Variation	info
Gene	BRCA1
CLNDBN	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome not provided not specified
Reversed	1
HGVS	NC_000017.10:g.41243506_41243507delCT
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000074588.6, RCV000077560.6, RCV000131889.3, RCV000235130.1, RCV000238700.1,