rs80357755

minus

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

Make rs80357755(-;-)

Reference

GRCh38 38.1/142

Chromosome

17

Position

43093333

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357755
dbSNP (classic)	rs80357755
ClinGen	rs80357755
ebi	rs80357755
HLI	rs80357755
Exac	rs80357755
Gnomad	rs80357755
Varsome	rs80357755
LitVar	rs80357755
Map	rs80357755
PheGenI	rs80357755
Biobank	rs80357755
1000 genomes	rs80357755
hgdp	rs80357755
ensembl	rs80357755
geneview	rs80357755
scholar	rs80357755
google	rs80357755
pharmgkb	rs80357755
gwascentral	rs80357755
openSNP	rs80357755
23andMe	rs80357755
SNPshot	rs80357755
SNPdbe	rs80357755
MSV3d	rs80357755
GWAS Ctlg	rs80357755

Status

Merged into rs80357507

Max Magnitude

6

rs80357755, also known as 2313del5, c.2194_2198delGAAGA and p.Glu732_Glu733?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk
Alt
Reference	Rs80357755(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,