rs80357771

minus

Geno	Mag	Summary
(-;AAGAG)	6	BRCA1 variant considered pathogenic for breast cancer
(AAGAG;AAGAG)	0	common/normal
(GAGAA;GAGAA)	0	common in clinvar

Make rs80357771(-;-)

Reference

GRCh38 38.1/142

Chromosome

17

Position

43093332

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357771
dbSNP (classic)	rs80357771
ClinGen	rs80357771
ebi	rs80357771
HLI	rs80357771
Exac	rs80357771
Gnomad	rs80357771
Varsome	rs80357771
LitVar	rs80357771
Map	rs80357771
PheGenI	rs80357771
Biobank	rs80357771
1000 genomes	rs80357771
hgdp	rs80357771
ensembl	rs80357771
geneview	rs80357771
scholar	rs80357771
google	rs80357771
pharmgkb	rs80357771
gwascentral	rs80357771
openSNP	rs80357771
23andMe	rs80357771
SNPshot	rs80357771
SNPdbe	rs80357771
MSV3d	rs80357771
GWAS Ctlg	rs80357771

Status

Merged into rs80357507

Max Magnitude

6

rs80357771, also known as 2314del5, c.2195_2199delAAGAG and p.Glu732_Glu733?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk
Alt
Reference	Rs80357771(GAGAA;GAGAA)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer not provided
Variation	info
Gene	BRCA1
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 1 not provided
Reversed	1
HGVS	NC_000017.10:g.41245347_41245351delTTCTC
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000047754.3, RCV000111789.5, RCV000254636.1,