rs80357911

minus

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

Make rs80357911(-;-)

Reference

GRCh38 38.1/142

Chromosome

17

Position

43094521

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357911
dbSNP (classic)	rs80357911
ClinGen	rs80357911
ebi	rs80357911
HLI	rs80357911
Exac	rs80357911
Gnomad	rs80357911
Varsome	rs80357911
LitVar	rs80357911
Map	rs80357911
PheGenI	rs80357911
Biobank	rs80357911
1000 genomes	rs80357911
hgdp	rs80357911
ensembl	rs80357911
geneview	rs80357911
scholar	rs80357911
google	rs80357911
pharmgkb	rs80357911
gwascentral	rs80357911
openSNP	rs80357911
23andMe	rs80357911
SNPshot	rs80357911
SNPdbe	rs80357911
MSV3d	rs80357911
GWAS Ctlg	rs80357911

Status

Merged into rs80357618

Max Magnitude

6

rs80357911, also known as 1129delA, c.1010_1010delA and p.Glu337=fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk
Alt
Reference	Rs80357911(A;A)
Significance	Pathogenic
Disease	Breast-ovarian cancer Familial cancer of breast Hereditary cancer-predisposing syndrome
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1 Familial cancer of breast Hereditary cancer-predisposing syndrome
Reversed	1
HGVS	NC_000017.10:g.41246532delT
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000030967.8, RCV000047309.2, RCV000222143.1,