rs80358158

Orientation

minus

Stabilized

minus

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

Make rs80358158(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43106534

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80358158
dbSNP (classic)	rs80358158
ClinGen	rs80358158
ebi	rs80358158
HLI	rs80358158
Exac	rs80358158
Gnomad	rs80358158
Varsome	rs80358158
LitVar	rs80358158
Map	rs80358158
PheGenI	rs80358158
Biobank	rs80358158
1000 genomes	rs80358158
hgdp	rs80358158
ensembl	rs80358158
geneview	rs80358158
scholar	rs80358158
google	rs80358158
pharmgkb	rs80358158
gwascentral	rs80358158
openSNP	rs80358158
23andMe	rs80358158
SNPshot	rs80358158
SNPdbe	rs80358158
MSV3d	rs80358158
GWAS Ctlg	rs80358158

Max Magnitude

6

rs80358158, also known as c.135-1G>T and c.135-1G>C, represents a variant in the BRCA1 gene.

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

ClinVar
Risk	rs80358158(A;A) rs80358158(C;C) rs80358158(T;T)
Alt	rs80358158(A;A) rs80358158(C;C) rs80358158(T;T)
Reference	Rs80358158(G;G)
Significance	Pathogenic
Disease	Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided
Reversed	1
HGVS	NC_000017.10:g.41258551C>A; NC_000017.10:g.41258551C>G; NC_000017.10:g.41258551C>T
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000030985.5, RCV000047435.3, RCV000131843.2, RCV000236913.2, RCV000047434.3, RCV000111858.1, RCV000235787.2,