rs80357747

minus

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

Make rs80357747(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43094833

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357747
dbSNP (classic)	rs80357747
ClinGen	rs80357747
ebi	rs80357747
HLI	rs80357747
Exac	rs80357747
Gnomad	rs80357747
Varsome	rs80357747
LitVar	rs80357747
Map	rs80357747
PheGenI	rs80357747
Biobank	rs80357747
1000 genomes	rs80357747
hgdp	rs80357747
ensembl	rs80357747
geneview	rs80357747
scholar	rs80357747
google	rs80357747
pharmgkb	rs80357747
gwascentral	rs80357747
openSNP	rs80357747
23andMe	rs80357747
SNPshot	rs80357747
SNPdbe	rs80357747
MSV3d	rs80357747
GWAS Ctlg	rs80357747

Max Magnitude

6

rs80357747, also known as 816delGT, c.697_698delGT and p.Val233Asnfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357747(-;-)
Alt	rs80357747(-;-)
Reference	Rs80357747(GT;GT)
Significance	Pathogenic
Disease	Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome
Reversed	1
HGVS	NC_000017.10:g.41246850_41246851delAC
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000031276.8, RCV000049102.3, RCV000131861.3,