rs80357180

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;G)	1	Benign variant
(C;T)	6	BRCA1 variant reported to be pathogenic for breast cancer

Make rs80357180(G;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43099859

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357180
dbSNP (classic)	rs80357180
ClinGen	rs80357180
ebi	rs80357180
HLI	rs80357180
Exac	rs80357180
Gnomad	rs80357180
Varsome	rs80357180
LitVar	rs80357180
Map	rs80357180
PheGenI	rs80357180
Biobank	rs80357180
1000 genomes	rs80357180
hgdp	rs80357180
ensembl	rs80357180
geneview	rs80357180
scholar	rs80357180
google	rs80357180
pharmgkb	rs80357180
gwascentral	rs80357180
openSNP	rs80357180
23andMe	rs80357180
SNPshot	rs80357180
SNPdbe	rs80357180
MSV3d	rs80357180
GWAS Ctlg	rs80357180

Max Magnitude

6

aka c.463C>T (p.Gln155Ter or Q155X); and also c.463C>G (p.Gln155Glu or Q155E); the former is a pathogenic mutation, while the latter is benign

ClinVar
Risk	rs80357180(G;G) rs80357180(T;T)
Alt	rs80357180(G;G) rs80357180(T;T)
Reference	Rs80357180(C;C)
Significance	Probable-non-pathogenic
Disease	Familial cancer of breast Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome not specified
Variation	info
Gene	BRCA1
CLNDBN	Familial cancer of breast Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome not specified
Reversed	1
HGVS	NC_000017.10:g.41251876G>A; NC_000017.10:g.41251876G>C
CLNSRC	Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation
CLNACC	RCV000048615.2, RCV000048614.6, RCV000083209.5, RCV000162968.1, RCV000433057.1,