rs80357970

minus

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

Make rs80357970(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43093056

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357970
dbSNP (classic)	rs80357970
ClinGen	rs80357970
ebi	rs80357970
HLI	rs80357970
Exac	rs80357970
Gnomad	rs80357970
Varsome	rs80357970
LitVar	rs80357970
Map	rs80357970
PheGenI	rs80357970
Biobank	rs80357970
1000 genomes	rs80357970
hgdp	rs80357970
ensembl	rs80357970
geneview	rs80357970
scholar	rs80357970
google	rs80357970
pharmgkb	rs80357970
gwascentral	rs80357970
openSNP	rs80357970
23andMe	rs80357970
SNPshot	rs80357970
SNPdbe	rs80357970
MSV3d	rs80357970
GWAS Ctlg	rs80357970

Max Magnitude

6

rs80357970, also known as c.2475delC, 2594delC, c.2475_2475delC and p.Asp825Glufs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357970(-;-)
Alt	rs80357970(-;-)
Reference	Rs80357970(C;C)
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.41245073delG
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000031053.9, RCV000047850.6, RCV000131352.3, RCV000236906.3,