rs80357347

Orientation

minus

Stabilized

minus

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

Make rs80357347(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43063347

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357347
dbSNP (classic)	rs80357347
ClinGen	rs80357347
ebi	rs80357347
HLI	rs80357347
Exac	rs80357347
Gnomad	rs80357347
Varsome	rs80357347
LitVar	rs80357347
Map	rs80357347
PheGenI	rs80357347
Biobank	rs80357347
1000 genomes	rs80357347
hgdp	rs80357347
ensembl	rs80357347
geneview	rs80357347
scholar	rs80357347
google	rs80357347
pharmgkb	rs80357347
gwascentral	rs80357347
openSNP	rs80357347
23andMe	rs80357347
SNPshot	rs80357347
SNPdbe	rs80357347
MSV3d	rs80357347
GWAS Ctlg	rs80357347

Max Magnitude

6

rs80357347, also known as K1727X, c.5179A>T and p.Lys1727Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

23andMe name: i6008219

ClinVar
Risk	rs80357347(C;C) rs80357347(T;T)
Alt	rs80357347(C;C) rs80357347(T;T)
Reference	Rs80357347(A;A)
Significance	Pathogenic
Disease	Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided not specified
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided not specified
Reversed	1
HGVS	NC_000017.10:g.41215364T>A; NC_000017.10:g.41215364T>G
CLNSRC	Ambry Genetics ClinVar
CLNACC	RCV000031226.8, RCV000048844.4, RCV000131827.3, RCV000237069.1, RCV000480732.1,