rs80357969

minus

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

Make rs80357969(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43094170

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357969
dbSNP (classic)	rs80357969
ClinGen	rs80357969
ebi	rs80357969
HLI	rs80357969
Exac	rs80357969
Gnomad	rs80357969
Varsome	rs80357969
LitVar	rs80357969
Map	rs80357969
PheGenI	rs80357969
Biobank	rs80357969
1000 genomes	rs80357969
hgdp	rs80357969
ensembl	rs80357969
geneview	rs80357969
scholar	rs80357969
google	rs80357969
pharmgkb	rs80357969
gwascentral	rs80357969
openSNP	rs80357969
23andMe	rs80357969
SNPshot	rs80357969
SNPdbe	rs80357969
MSV3d	rs80357969
GWAS Ctlg	rs80357969

Max Magnitude

6

rs80357969, also known as 1479delAG, c.1360_1361delAG and p.Ser454Terfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357969(-;-)
Alt	rs80357969(-;-)
Reference	Rs80357969(AG;AG)
Significance	Pathogenic
Disease	Breast-ovarian cancer Familial cancer of breast Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1 Familial cancer of breast Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Reversed	1
HGVS	NC_000017.10:g.41246187_41246188delCT
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000030987.8, RCV000047440.3, RCV000131838.3, RCV000456126.1,