rs80357267

Orientation

minus

Stabilized

minus

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

Make rs80357267(A;A)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43093615

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357267
dbSNP (classic)	rs80357267
ClinGen	rs80357267
ebi	rs80357267
HLI	rs80357267
Exac	rs80357267
Gnomad	rs80357267
Varsome	rs80357267
LitVar	rs80357267
Map	rs80357267
PheGenI	rs80357267
Biobank	rs80357267
1000 genomes	rs80357267
hgdp	rs80357267
ensembl	rs80357267
geneview	rs80357267
scholar	rs80357267
google	rs80357267
pharmgkb	rs80357267
gwascentral	rs80357267
openSNP	rs80357267
23andMe	rs80357267
SNPshot	rs80357267
SNPdbe	rs80357267
MSV3d	rs80357267
GWAS Ctlg	rs80357267

Max Magnitude

6

rs80357267, also known as L639X, c.1916T>A and p.Leu639Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

23andMe name: i5010237

ClinVar
Risk	rs80357267(A;A)
Alt	rs80357267(A;A)
Reference	Rs80357267(T;T)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided
Variation	info
Gene	BRCA1
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome not provided
Reversed	1
HGVS	NC_000017.10:g.41245632A>T
CLNSRC	Ambry Genetics ClinVar
CLNACC	RCV000047640.4, RCV000083175.5, RCV000131894.3, RCV000212165.1,