rs80357780

minus

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

Make rs80357780(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43093234

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357780
dbSNP (classic)	rs80357780
ClinGen	rs80357780
ebi	rs80357780
HLI	rs80357780
Exac	rs80357780
Gnomad	rs80357780
Varsome	rs80357780
LitVar	rs80357780
Map	rs80357780
PheGenI	rs80357780
Biobank	rs80357780
1000 genomes	rs80357780
hgdp	rs80357780
ensembl	rs80357780
geneview	rs80357780
scholar	rs80357780
google	rs80357780
pharmgkb	rs80357780
gwascentral	rs80357780
openSNP	rs80357780
23andMe	rs80357780
SNPshot	rs80357780
SNPdbe	rs80357780
MSV3d	rs80357780
GWAS Ctlg	rs80357780

Max Magnitude

6

rs80357780, also known as 2415delAG, c.2296_2297delAG and p.Ser766Terfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

OMIM	113705
Desc
Variant	0007
Related	also

ClinVar
Risk	rs80357780(-;-)
Alt	rs80357780(-;-)
Reference	Rs80357780(AG;AG)
Significance	Pathogenic
Disease	Breast-ovarian cancer Familial cancer of breast Hereditary cancer-predisposing syndrome
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1 Familial cancer of breast Hereditary cancer-predisposing syndrome
Reversed	1
HGVS	NC_000017.10:g.41245251_41245252delCT
CLNSRC	Breast Cancer Information Core (BRCA1) OMIM Allelic Variant
CLNACC	RCV000019235.8, RCV000047787.2, RCV000214000.1,