rs80358002

Orientation

minus

Stabilized

minus

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

Make rs80358002(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43047705

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80358002
dbSNP (classic)	rs80358002
ClinGen	rs80358002
ebi	rs80358002
HLI	rs80358002
Exac	rs80358002
Gnomad	rs80358002
Varsome	rs80358002
LitVar	rs80358002
Map	rs80358002
PheGenI	rs80358002
Biobank	rs80358002
1000 genomes	rs80358002
hgdp	rs80358002
ensembl	rs80358002
geneview	rs80358002
scholar	rs80358002
google	rs80358002
pharmgkb	rs80358002
gwascentral	rs80358002
openSNP	rs80358002
23andMe	rs80358002
SNPshot	rs80358002
SNPdbe	rs80358002
MSV3d	rs80358002
GWAS Ctlg	rs80358002

Max Magnitude

6

rs80358002, known also as both c.5407-2A>T and c.5407-2A>G, is a rare variant in the BRCA1 gene.

ClinVar designates both minor alleles as pathogenic for breast cancer.

ClinVar
Risk	rs80358002(G;G) rs80358002(T;T)
Alt	rs80358002(G;G) rs80358002(T;T)
Reference	Rs80358002(A;A)
Significance	Pathogenic
Disease	Breast-ovarian cancer Familial cancer of breast
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1 Familial cancer of breast
Reversed	1
HGVS	NC_000017.10:g.41199722T>A; NC_000017.10:g.41199722T>C
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000112646.1, RCV000048980.2, RCV000112645.2,