rs80357382

Orientation

minus

Stabilized

minus

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

Make rs80357382(G;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43106457

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357382
dbSNP (classic)	rs80357382
ClinGen	rs80357382
ebi	rs80357382
HLI	rs80357382
Exac	rs80357382
Gnomad	rs80357382
Varsome	rs80357382
LitVar	rs80357382
Map	rs80357382
PheGenI	rs80357382
Biobank	rs80357382
1000 genomes	rs80357382
hgdp	rs80357382
ensembl	rs80357382
geneview	rs80357382
scholar	rs80357382
google	rs80357382
pharmgkb	rs80357382
gwascentral	rs80357382
openSNP	rs80357382
23andMe	rs80357382
SNPshot	rs80357382
SNPdbe	rs80357382
MSV3d	rs80357382
GWAS Ctlg	rs80357382

Max Magnitude

6

c.211A>G (p.Arg71Gly)

ClinVar designates this variant as pathogenic/likely pathogenic for breast cancer

23andMe name: i5005573

OMIM	113705
Desc
Variant	0034
Related	also

ClinVar
Risk	rs80357382(G;G)
Alt	rs80357382(G;G)
Reference	Rs80357382(A;A)
Significance	Other
Disease	Breast-ovarian cancer not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome Familial cancer of breast
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1 not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome Familial cancer of breast
Reversed	1
HGVS	NC_000017.10:g.41258474T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000019263.10, RCV000047713.6, RCV000131899.4, RCV000195359.3, RCV000469732.1,