rs80357616

minus

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

Make rs80357616(G;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43091710

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357616
dbSNP (classic)	rs80357616
ClinGen	rs80357616
ebi	rs80357616
HLI	rs80357616
Exac	rs80357616
Gnomad	rs80357616
Varsome	rs80357616
LitVar	rs80357616
Map	rs80357616
PheGenI	rs80357616
Biobank	rs80357616
1000 genomes	rs80357616
hgdp	rs80357616
ensembl	rs80357616
geneview	rs80357616
scholar	rs80357616
google	rs80357616
pharmgkb	rs80357616
gwascentral	rs80357616
openSNP	rs80357616
23andMe	rs80357616
SNPshot	rs80357616
SNPdbe	rs80357616
MSV3d	rs80357616
GWAS Ctlg	rs80357616

Max Magnitude

6

rs80357616, also known as c.3820dupG, c.788-679delG, 3939insG, c.3820_3821insG and p.Val1274?fs, are variants in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357616(G;G)
Alt	rs80357616(G;G)
Reference	Rs80357616(-;-)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer
Variation	info
Gene	BRCA1
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 1
Reversed	1
HGVS	NC_000017.10:g.41243728dupC
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000048344.2, RCV000112192.3,