rs80357918

minus

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

Make rs80357918(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43091661

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357918
dbSNP (classic)	rs80357918
ClinGen	rs80357918
ebi	rs80357918
HLI	rs80357918
Exac	rs80357918
Gnomad	rs80357918
Varsome	rs80357918
LitVar	rs80357918
Map	rs80357918
PheGenI	rs80357918
Biobank	rs80357918
1000 genomes	rs80357918
hgdp	rs80357918
ensembl	rs80357918
geneview	rs80357918
scholar	rs80357918
google	rs80357918
pharmgkb	rs80357918
gwascentral	rs80357918
openSNP	rs80357918
23andMe	rs80357918
SNPshot	rs80357918
SNPdbe	rs80357918
MSV3d	rs80357918
GWAS Ctlg	rs80357918

Max Magnitude

6

rs80357918, also known as 3988delAA, c.3869_3870delAA and p.Lys1290Metfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357918(-;-)
Alt	rs80357918(-;-)
Reference	Rs80357918(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.41243678_41243679delTT
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000048362.3, RCV000112206.3, RCV000213665.1,