rs80357590

minus

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

Make rs80357590(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43049192

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357590
dbSNP (classic)	rs80357590
ClinGen	rs80357590
ebi	rs80357590
HLI	rs80357590
Exac	rs80357590
Gnomad	rs80357590
Varsome	rs80357590
LitVar	rs80357590
Map	rs80357590
PheGenI	rs80357590
Biobank	rs80357590
1000 genomes	rs80357590
hgdp	rs80357590
ensembl	rs80357590
geneview	rs80357590
scholar	rs80357590
google	rs80357590
pharmgkb	rs80357590
gwascentral	rs80357590
openSNP	rs80357590
23andMe	rs80357590
SNPshot	rs80357590
SNPdbe	rs80357590
MSV3d	rs80357590
GWAS Ctlg	rs80357590

Max Magnitude

6

rs80357590, also known as 5454delC, c.5335_5335delC and p.Gln1779Asnfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357590(-;-)
Alt	rs80357590(-;-)
Reference	Rs80357590(C;C)
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.41201209delG
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000031238.6, RCV000048947.4, RCV000129334.2, RCV000159930.2,