rs80357842

minus

Geno	Mag	Summary
(-;AGTG)	6	BRCA1 variant considered pathogenic for breast cancer
(-;TGAG)	6	BRCA1 variant considered pathogenic for breast cancer
(AGTG;AGTG)	0	common/normal
(TGAG;TGAG)	0	common in clinvar

Make rs80357842(-;-)

Reference

GRCh38 38.1/142

Chromosome

17

Position

43091672

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357842
dbSNP (classic)	rs80357842
ClinGen	rs80357842
ebi	rs80357842
HLI	rs80357842
Exac	rs80357842
Gnomad	rs80357842
Varsome	rs80357842
LitVar	rs80357842
Map	rs80357842
PheGenI	rs80357842
Biobank	rs80357842
1000 genomes	rs80357842
hgdp	rs80357842
ensembl	rs80357842
geneview	rs80357842
scholar	rs80357842
google	rs80357842
pharmgkb	rs80357842
gwascentral	rs80357842
openSNP	rs80357842
23andMe	rs80357842
SNPshot	rs80357842
SNPdbe	rs80357842
MSV3d	rs80357842
GWAS Ctlg	rs80357842

Merged from

Rs80357889

Max Magnitude

6

rs80357842, also known as 3975del4, c.3856_3859delAGTG and p.Ser1286_Glu1287?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	Rs80357842(TGAG;TGAG) rs80357842(-;-)
Alt	Rs80357842(TGAG;TGAG) rs80357842(-;-)
Reference	Rs80357842(AGTG;AGTG)
Significance	Pathogenic
Disease	Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome
Reversed	1
HGVS	NC_000017.10:g.41243687_41243690delCTCA
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000031134.8, RCV000048359.6,