rs80357786

minus

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

Make rs80357786(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43093232

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357786
dbSNP (classic)	rs80357786
ClinGen	rs80357786
ebi	rs80357786
HLI	rs80357786
Exac	rs80357786
Gnomad	rs80357786
Varsome	rs80357786
LitVar	rs80357786
Map	rs80357786
PheGenI	rs80357786
Biobank	rs80357786
1000 genomes	rs80357786
hgdp	rs80357786
ensembl	rs80357786
geneview	rs80357786
scholar	rs80357786
google	rs80357786
pharmgkb	rs80357786
gwascentral	rs80357786
openSNP	rs80357786
23andMe	rs80357786
SNPshot	rs80357786
SNPdbe	rs80357786
MSV3d	rs80357786
GWAS Ctlg	rs80357786

Max Magnitude

6

rs80357786, also known as 2418delA, c.2299_2299delA and p.Ser767Alafs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357786(-;-)
Alt	rs80357786(-;-)
Reference	Rs80357786(A;A)
Significance	Pathogenic
Disease	Breast-ovarian cancer Familial cancer of breast Hereditary cancer-predisposing syndrome not provided
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1 Familial cancer of breast Hereditary cancer-predisposing syndrome not provided
Reversed	1
HGVS	NC_000017.10:g.41245249delT
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000031043.6, RCV000047789.2, RCV000132306.3, RCV000481946.1,