rs80357814

minus

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

Make rs80357814(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43093420

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357814
dbSNP (classic)	rs80357814
ClinGen	rs80357814
ebi	rs80357814
HLI	rs80357814
Exac	rs80357814
Gnomad	rs80357814
Varsome	rs80357814
LitVar	rs80357814
Map	rs80357814
PheGenI	rs80357814
Biobank	rs80357814
1000 genomes	rs80357814
hgdp	rs80357814
ensembl	rs80357814
geneview	rs80357814
scholar	rs80357814
google	rs80357814
pharmgkb	rs80357814
gwascentral	rs80357814
openSNP	rs80357814
23andMe	rs80357814
SNPshot	rs80357814
SNPdbe	rs80357814
MSV3d	rs80357814
GWAS Ctlg	rs80357814

Max Magnitude

6

rs80357814, also known as 2229delAA, c.2110_2111delAA and p.Asn704Cysfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357814(-;-)
Alt	rs80357814(-;-)
Reference	Rs80357814(AA;AA)
Significance	Pathogenic
Disease	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation	info
Gene	BRCA1
CLNDBN	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome
Reversed	1
HGVS	NC_000017.10:g.41245437_41245438delTT
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000047712.3, RCV000111773.3, RCV000162850.2,