rs80357006

Orientation

minus

Stabilized

minus

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

Make rs80357006(G;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43092274

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357006
dbSNP (classic)	rs80357006
ClinGen	rs80357006
ebi	rs80357006
HLI	rs80357006
Exac	rs80357006
Gnomad	rs80357006
Varsome	rs80357006
LitVar	rs80357006
Map	rs80357006
PheGenI	rs80357006
Biobank	rs80357006
1000 genomes	rs80357006
hgdp	rs80357006
ensembl	rs80357006
geneview	rs80357006
scholar	rs80357006
google	rs80357006
pharmgkb	rs80357006
gwascentral	rs80357006
openSNP	rs80357006
23andMe	rs80357006
SNPshot	rs80357006
SNPdbe	rs80357006
MSV3d	rs80357006
GWAS Ctlg	rs80357006

Max Magnitude

6

rs80357006, also known as L1086X, c.3257T>A and p.Leu1086Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357006(A;A) rs80357006(C;C) rs80357006(G;G)
Alt	rs80357006(A;A) rs80357006(C;C) rs80357006(G;G)
Reference	Rs80357006(T;T)
Significance	Pathogenic
Disease	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome Neoplasm of breast Familial cancer of breast
Variation	info
Gene	BRCA1
CLNDBN	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome Neoplasm of breast Familial cancer of breast
Reversed	1
HGVS	NC_000017.10:g.41244291A>C; NC_000017.10:g.41244291A>G; NC_000017.10:g.41244291A>T
CLNSRC	Ambry Genetics ClinVar
CLNACC	RCV000048114.3, RCV000083194.5, RCV000131910.2, RCV000414138.1, RCV000048113.2, RCV000112038.1, RCV000048112.2, RCV000112037.3,