rs80357055

Orientation

minus

Stabilized

minus

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

Make rs80357055(A;A)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43049140

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357055
dbSNP (classic)	rs80357055
ClinGen	rs80357055
ebi	rs80357055
HLI	rs80357055
Exac	rs80357055
Gnomad	rs80357055
Varsome	rs80357055
LitVar	rs80357055
Map	rs80357055
PheGenI	rs80357055
Biobank	rs80357055
1000 genomes	rs80357055
hgdp	rs80357055
ensembl	rs80357055
geneview	rs80357055
scholar	rs80357055
google	rs80357055
pharmgkb	rs80357055
gwascentral	rs80357055
openSNP	rs80357055
23andMe	rs80357055
SNPshot	rs80357055
SNPdbe	rs80357055
MSV3d	rs80357055
GWAS Ctlg	rs80357055

Max Magnitude

6

rs80357055, also known as S1796X, c.5387C>A and p.Ser1796Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357055(A;A)
Alt	rs80357055(A;A)
Reference	Rs80357055(C;C)
Significance	Pathogenic
Disease	Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome
Reversed	1
HGVS	NC_000017.10:g.41201157G>T
CLNSRC	ClinVar
CLNACC	RCV000031244.5, RCV000048970.3, RCV000162886.1,