rs80357254

Orientation

minus

Stabilized

minus

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

Make rs80357254(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43091663

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357254
dbSNP (classic)	rs80357254
ClinGen	rs80357254
ebi	rs80357254
HLI	rs80357254
Exac	rs80357254
Gnomad	rs80357254
Varsome	rs80357254
LitVar	rs80357254
Map	rs80357254
PheGenI	rs80357254
Biobank	rs80357254
1000 genomes	rs80357254
hgdp	rs80357254
ensembl	rs80357254
geneview	rs80357254
scholar	rs80357254
google	rs80357254
pharmgkb	rs80357254
gwascentral	rs80357254
openSNP	rs80357254
23andMe	rs80357254
SNPshot	rs80357254
SNPdbe	rs80357254
MSV3d	rs80357254
GWAS Ctlg	rs80357254

Max Magnitude

6

rs80357254, also known as K1290X, c.3868A>T and p.Lys1290Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357254(G;G) rs80357254(T;T)
Alt	rs80357254(G;G) rs80357254(T;T)
Reference	Rs80357254(A;A)
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.41243680T>A; NC_000017.10:g.41243680T>C
CLNSRC	ClinVar
CLNACC	RCV000031135.6, RCV000048361.3, RCV000077134.2, RCV000218431.1, RCV000234532.1,