rs80358047

minus

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

Make rs80358047(A;A)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43099773

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80358047
dbSNP (classic)	rs80358047
ClinGen	rs80358047
ebi	rs80358047
HLI	rs80358047
Exac	rs80358047
Gnomad	rs80358047
Varsome	rs80358047
LitVar	rs80358047
Map	rs80358047
PheGenI	rs80358047
Biobank	rs80358047
1000 genomes	rs80358047
hgdp	rs80358047
ensembl	rs80358047
geneview	rs80358047
scholar	rs80358047
google	rs80358047
pharmgkb	rs80358047
gwascentral	rs80358047
openSNP	rs80358047
23andMe	rs80358047
SNPshot	rs80358047
SNPdbe	rs80358047
MSV3d	rs80358047
GWAS Ctlg	rs80358047

Max Magnitude

6

rs80358047, also known as c.547+2T>A, is a mutation in the BRCA1 gene reported by multiple sources to be clinically significant (in terms of pathogenicity) for breast cancer.ClinVar

23andMe name: i5009552

ClinVar
Risk	rs80358047(A;A)
Alt	rs80358047(A;A)
Reference	Rs80358047(T;T)
Significance	Pathogenic
Disease	Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome not provided
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome not provided
Reversed	1
HGVS	NC_000017.10:g.41251790A>T
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000031255.7, RCV000034759.2, RCV000481282.1,