rs80358152

Orientation

minus

Stabilized

minus

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

Make rs80358152(G;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43082402

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80358152
dbSNP (classic)	rs80358152
ClinGen	rs80358152
ebi	rs80358152
HLI	rs80358152
Exac	rs80358152
Gnomad	rs80358152
Varsome	rs80358152
LitVar	rs80358152
Map	rs80358152
PheGenI	rs80358152
Biobank	rs80358152
1000 genomes	rs80358152
hgdp	rs80358152
ensembl	rs80358152
geneview	rs80358152
scholar	rs80358152
google	rs80358152
pharmgkb	rs80358152
gwascentral	rs80358152
openSNP	rs80358152
23andMe	rs80358152
SNPshot	rs80358152
SNPdbe	rs80358152
MSV3d	rs80358152
GWAS Ctlg	rs80358152

Max Magnitude

6

rs80358152, also known as both c.4357+2T>G and c.4357+2T>C, represents a rare variant in the BRCA1 gene.

Both minor variants are considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80358152(C;C) rs80358152(G;G)
Alt	rs80358152(C;C) rs80358152(G;G)
Reference	Rs80358152(T;T)
Significance	Pathogenic
Disease	Breast-ovarian cancer not provided Familial cancer of breast
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1 not provided Familial cancer of breast
Reversed	1
HGVS	NC_000017.10:g.41234419A>C; NC_000017.10:g.41234419A>G
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000077146.3, RCV000483230.1, RCV000048536.2, RCV000077571.2,