rs80357572

minus

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

Make rs80357572(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43090963

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357572
dbSNP (classic)	rs80357572
ClinGen	rs80357572
ebi	rs80357572
HLI	rs80357572
Exac	rs80357572
Gnomad	rs80357572
Varsome	rs80357572
LitVar	rs80357572
Map	rs80357572
PheGenI	rs80357572
Biobank	rs80357572
1000 genomes	rs80357572
hgdp	rs80357572
ensembl	rs80357572
geneview	rs80357572
scholar	rs80357572
google	rs80357572
pharmgkb	rs80357572
gwascentral	rs80357572
openSNP	rs80357572
23andMe	rs80357572
SNPshot	rs80357572
SNPdbe	rs80357572
MSV3d	rs80357572
GWAS Ctlg	rs80357572

Max Magnitude

6

rs80357572, also known as 4284delAG, c.4165_4166delAG and p.Ser1389Terfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357572(-;-)
Alt	rs80357572(-;-)
Reference	Rs80357572(AG;AG)
Significance	Pathogenic
Disease	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer not provided
Variation	info
Gene	BRCA1
CLNDBN	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1 not provided
Reversed	1
HGVS	NC_000017.10:g.41242980_41242981delCT
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000048463.6, RCV000077562.5, RCV000486156.1,