rs80357997

minus

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

Make rs80357997(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43063889

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357997
dbSNP (classic)	rs80357997
ClinGen	rs80357997
ebi	rs80357997
HLI	rs80357997
Exac	rs80357997
Gnomad	rs80357997
Varsome	rs80357997
LitVar	rs80357997
Map	rs80357997
PheGenI	rs80357997
Biobank	rs80357997
1000 genomes	rs80357997
hgdp	rs80357997
ensembl	rs80357997
geneview	rs80357997
scholar	rs80357997
google	rs80357997
pharmgkb	rs80357997
gwascentral	rs80357997
openSNP	rs80357997
23andMe	rs80357997
SNPshot	rs80357997
SNPdbe	rs80357997
MSV3d	rs80357997
GWAS Ctlg	rs80357997

Max Magnitude

6

rs80357997, also known as 5256delG, c.5137_5137delG and p.Val1713Terfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357997(-;-)
Alt	rs80357997(-;-)
Reference	Rs80357997(G;G)
Significance	Pathogenic
Disease	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided
Variation	info
Gene	BRCA1
CLNDBN	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome not provided
Reversed	1
HGVS	NC_000017.10:g.41215906delC
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000048807.5, RCV000077601.6, RCV000131392.3, RCV000235540.1,