rs80357733

minus

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

Make rs80357733(-;-)

Reference

GRCh38 38.1/142

Chromosome

17

Position

43093463

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357733
dbSNP (classic)	rs80357733
ClinGen	rs80357733
ebi	rs80357733
HLI	rs80357733
Exac	rs80357733
Gnomad	rs80357733
Varsome	rs80357733
LitVar	rs80357733
Map	rs80357733
PheGenI	rs80357733
Biobank	rs80357733
1000 genomes	rs80357733
hgdp	rs80357733
ensembl	rs80357733
geneview	rs80357733
scholar	rs80357733
google	rs80357733
pharmgkb	rs80357733
gwascentral	rs80357733
openSNP	rs80357733
23andMe	rs80357733
SNPshot	rs80357733
SNPdbe	rs80357733
MSV3d	rs80357733
GWAS Ctlg	rs80357733

Status

Merged into rs80357688

Max Magnitude

6

rs80357733, also known as 2187delA, c.2068_2068delA and p.Lys690=fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk
Alt
Reference	Rs80357733(A;A)
Significance	Pathogenic
Disease	Breast-ovarian cancer not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1 not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Reversed	1
HGVS	NC_000017.10:g.41245477delT
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000031025.8, RCV000047699.5, RCV000131404.3, RCV000167861.3,