rs80357941

minus

Geno	Mag	Summary
(-;T)	6	BRCA1 variant considered pathogenic for breast cancer
(T;T)	0	Normal

Make rs80357941(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43094855

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357941
dbSNP (classic)	rs80357941
ClinGen	rs80357941
ebi	rs80357941
HLI	rs80357941
Exac	rs80357941
Gnomad	rs80357941
Varsome	rs80357941
LitVar	rs80357941
Map	rs80357941
PheGenI	rs80357941
Biobank	rs80357941
1000 genomes	rs80357941
hgdp	rs80357941
ensembl	rs80357941
geneview	rs80357941
scholar	rs80357941
google	rs80357941
pharmgkb	rs80357941
gwascentral	rs80357941
openSNP	rs80357941
23andMe	rs80357941
SNPshot	rs80357941
SNPdbe	rs80357941
MSV3d	rs80357941
GWAS Ctlg	rs80357941

Max Magnitude

6

rs80357941, also known as 795delT, c.676_676delT and p.Cys226Valfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357941(-;-)
Alt	rs80357941(-;-)
Reference	Rs80357941(T;T)
Significance	Pathogenic
Disease	Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided
Reversed	1
HGVS	NC_000017.10:g.41246872delA
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000031274.9, RCV000049091.4, RCV000129754.3, RCV000235776.1,