rs80357065

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;T)	6	BRCA1 variant considered pathogenic for breast cancer
(T;T)	0	common in clinvar

Make rs80357065(A;A)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43049168

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357065
dbSNP (classic)	rs80357065
ClinGen	rs80357065
ebi	rs80357065
HLI	rs80357065
Exac	rs80357065
Gnomad	rs80357065
Varsome	rs80357065
LitVar	rs80357065
Map	rs80357065
PheGenI	rs80357065
Biobank	rs80357065
1000 genomes	rs80357065
hgdp	rs80357065
ensembl	rs80357065
geneview	rs80357065
scholar	rs80357065
google	rs80357065
pharmgkb	rs80357065
gwascentral	rs80357065
openSNP	rs80357065
23andMe	rs80357065
SNPshot	rs80357065
SNPdbe	rs80357065
MSV3d	rs80357065
GWAS Ctlg	rs80357065

Max Magnitude

6

c.5359T>A (p.Cys1787Ser)

Clinical significance in ClinVar: now considered pathogenic for breast cancer by consensus

ClinVar
Risk	rs80357065(A;A)
Alt	rs80357065(A;A)
Reference	Rs80357065(T;T)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer
Variation	info
Gene	BRCA1
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 1
Reversed	1
HGVS	NC_000017.10:g.41201185A>T
CLNSRC	Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation
CLNACC	RCV000048957.2, RCV000077619.5,