rs80357781

minus

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

Make rs80357781(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43092051

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357781
dbSNP (classic)	rs80357781
ClinGen	rs80357781
ebi	rs80357781
HLI	rs80357781
Exac	rs80357781
Gnomad	rs80357781
Varsome	rs80357781
LitVar	rs80357781
Map	rs80357781
PheGenI	rs80357781
Biobank	rs80357781
1000 genomes	rs80357781
hgdp	rs80357781
ensembl	rs80357781
geneview	rs80357781
scholar	rs80357781
google	rs80357781
pharmgkb	rs80357781
gwascentral	rs80357781
openSNP	rs80357781
23andMe	rs80357781
SNPshot	rs80357781
SNPdbe	rs80357781
MSV3d	rs80357781
GWAS Ctlg	rs80357781

Max Magnitude

6

rs80357781, also known as 3596del4, c.3477_3480delAAAG and p.Ile1159_Lys1160?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357781(-;-)
Alt	rs80357781(-;-)
Reference	Rs80357781(AAAG;AAAG)
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.41244068_41244071delCTTT
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000048209.3, RCV000077550.5, RCV000215402.1, RCV000235430.2,