rs80357703

minus

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

Make rs80357703(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43092769

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357703
dbSNP (classic)	rs80357703
ClinGen	rs80357703
ebi	rs80357703
HLI	rs80357703
Exac	rs80357703
Gnomad	rs80357703
Varsome	rs80357703
LitVar	rs80357703
Map	rs80357703
PheGenI	rs80357703
Biobank	rs80357703
1000 genomes	rs80357703
hgdp	rs80357703
ensembl	rs80357703
geneview	rs80357703
scholar	rs80357703
google	rs80357703
pharmgkb	rs80357703
gwascentral	rs80357703
openSNP	rs80357703
23andMe	rs80357703
SNPshot	rs80357703
SNPdbe	rs80357703
MSV3d	rs80357703
GWAS Ctlg	rs80357703

Max Magnitude

6

rs80357703, also known as 2881delA, c.2762_2762delA and p.Gln921Argfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357703(-;-)
Alt	rs80357703(-;-)
Reference	Rs80357703(A;A)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation	info
Gene	BRCA1
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome
Reversed	1
HGVS	NC_000017.10:g.41244786delT
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000047962.2, RCV000111934.3, RCV000165693.1,