rs80357522

minus

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

Make rs80357522(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43093570

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357522
dbSNP (classic)	rs80357522
ClinGen	rs80357522
ebi	rs80357522
HLI	rs80357522
Exac	rs80357522
Gnomad	rs80357522
Varsome	rs80357522
LitVar	rs80357522
Map	rs80357522
PheGenI	rs80357522
Biobank	rs80357522
1000 genomes	rs80357522
hgdp	rs80357522
ensembl	rs80357522
geneview	rs80357522
scholar	rs80357522
google	rs80357522
pharmgkb	rs80357522
gwascentral	rs80357522
openSNP	rs80357522
23andMe	rs80357522
SNPshot	rs80357522
SNPdbe	rs80357522
MSV3d	rs80357522
GWAS Ctlg	rs80357522

Max Magnitude

6

rs80357522 represents at least 4 BRCA1 gene mutations, known by a variety of names including c.1961dupA, c.1960_1961delAA, c.787+1171_787+1174delAAAA, c.1961del, 2080delA, c.1961_1961delA and p.Lys654Serfs; all are considered pathogenic variants for breast cancer in ClinVar.

ClinVar
Risk	rs80357522(-;-)
Alt	rs80357522(-;-)
Reference	Rs80357522(A;A)
Significance	Other
Disease	Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided Neoplasm of breast
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided Neoplasm of breast
Reversed	1
HGVS	NC_000017.10:g.41245587delT
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000031019.9, RCV000047660.7, RCV000130764.3, RCV000236783.2, RCV000414241.1,