rs80357664

minus

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

Make rs80357664(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43093119

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357664
dbSNP (classic)	rs80357664
ClinGen	rs80357664
ebi	rs80357664
HLI	rs80357664
Exac	rs80357664
Gnomad	rs80357664
Varsome	rs80357664
LitVar	rs80357664
Map	rs80357664
PheGenI	rs80357664
Biobank	rs80357664
1000 genomes	rs80357664
hgdp	rs80357664
ensembl	rs80357664
geneview	rs80357664
scholar	rs80357664
google	rs80357664
pharmgkb	rs80357664
gwascentral	rs80357664
openSNP	rs80357664
23andMe	rs80357664
SNPshot	rs80357664
SNPdbe	rs80357664
MSV3d	rs80357664
GWAS Ctlg	rs80357664

Max Magnitude

6

rs80357664, also known as 2530delAG, c.2411_2412delAG and p.Gln804Leufs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357664(-;-)
Alt	rs80357664(-;-)
Reference	Rs80357664(AG;AG)
Significance	Pathogenic
Disease	Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided not specified Familial cancer of breast
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided not specified Familial cancer of breast
Reversed	1
HGVS	NC_000017.10:g.41245136_41245137delCT
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000031047.7, RCV000047829.4, RCV000131426.2, RCV000159906.2, RCV000238967.1, RCV000458659.1,