rs80358137

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;G)	3	BRCA1 variant of unclear significance
(C;G)	6	BRCA1 variant considered pathogenic for breast cancer
(G;G)	0	common in clinvar

Make rs80358137(A;A)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43063374

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80358137
dbSNP (classic)	rs80358137
ClinGen	rs80358137
ebi	rs80358137
HLI	rs80358137
Exac	rs80358137
Gnomad	rs80358137
Varsome	rs80358137
LitVar	rs80358137
Map	rs80358137
PheGenI	rs80358137
Biobank	rs80358137
1000 genomes	rs80358137
hgdp	rs80358137
ensembl	rs80358137
geneview	rs80358137
scholar	rs80358137
google	rs80358137
pharmgkb	rs80358137
gwascentral	rs80358137
openSNP	rs80358137
23andMe	rs80358137
SNPshot	rs80358137
SNPdbe	rs80358137
MSV3d	rs80358137
GWAS Ctlg	rs80358137

Max Magnitude

6

c.5153-1G>A

some ClinVar reports indicate pathogenicity, others don't

ClinVar
Risk	rs80358137(A;A) rs80358137(C;C) rs80358137(T;T)
Alt	rs80358137(A;A) rs80358137(C;C) rs80358137(T;T)
Reference	Rs80358137(G;G)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome
Variation	info
Gene	BRCA1
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome
Reversed	1
HGVS	NC_000017.10:g.41215391C>A; NC_000017.10:g.41215391C>G; NC_000017.10:g.41215391C>T
CLNSRC	Breast Cancer Information Core (BRCA1) Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation
CLNACC	RCV000048828.2, RCV000031224.6, RCV000048827.3, RCV000048826.2, RCV000112530.1,