rs80357902

minus

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

Make rs80357902(A;A)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43091882

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357902
dbSNP (classic)	rs80357902
ClinGen	rs80357902
ebi	rs80357902
HLI	rs80357902
Exac	rs80357902
Gnomad	rs80357902
Varsome	rs80357902
LitVar	rs80357902
Map	rs80357902
PheGenI	rs80357902
Biobank	rs80357902
1000 genomes	rs80357902
hgdp	rs80357902
ensembl	rs80357902
geneview	rs80357902
scholar	rs80357902
google	rs80357902
pharmgkb	rs80357902
gwascentral	rs80357902
openSNP	rs80357902
23andMe	rs80357902
SNPshot	rs80357902
SNPdbe	rs80357902
MSV3d	rs80357902
GWAS Ctlg	rs80357902

Max Magnitude

6

rs80357902, also known as 3767insA, c.3648_3649insA and p.Leu1216_Ser1217?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357902(A;A)
Alt	rs80357902(A;A)
Reference	Rs80357902(-;-)
Significance	Pathogenic
Disease	Breast-ovarian cancer Familial cancer of breast Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1 Familial cancer of breast Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Reversed	1
HGVS	NC_000017.10:g.41243900dupT
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000031116.8, RCV000048270.3, RCV000221757.1, RCV000225763.2,