rs80357579

minus

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

Make rs80357579(-;-)

Reference

GRCh38 38.1/142

Chromosome

17

Position

43091761

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357579
dbSNP (classic)	rs80357579
ClinGen	rs80357579
ebi	rs80357579
HLI	rs80357579
Exac	rs80357579
Gnomad	rs80357579
Varsome	rs80357579
LitVar	rs80357579
Map	rs80357579
PheGenI	rs80357579
Biobank	rs80357579
1000 genomes	rs80357579
hgdp	rs80357579
ensembl	rs80357579
geneview	rs80357579
scholar	rs80357579
google	rs80357579
pharmgkb	rs80357579
gwascentral	rs80357579
openSNP	rs80357579
23andMe	rs80357579
SNPshot	rs80357579
SNPdbe	rs80357579
MSV3d	rs80357579
GWAS Ctlg	rs80357579

Merged from

Rs80357993

Max Magnitude

6

rs80357579, also known as 3888delGA, c.3769_3770delGA and p.Glu1257Glyfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	Rs80357579(AG;AG) rs80357579(-;-)
Alt	Rs80357579(AG;AG) rs80357579(-;-)
Reference	Rs80357579(GA;GA)
Significance	Pathogenic
Disease	Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided
Reversed	1
HGVS	NC_000017.10:g.41243777_41243778delCT
CLNSRC	Breast Cancer Information Core (BRCA1) OMIM Allelic Variant
CLNACC	RCV000031127.12, RCV000048325.6, RCV000131814.3, RCV000235232.2,