rs80357729

minus

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

Make rs80357729(A;A)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43091903

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357729
dbSNP (classic)	rs80357729
ClinGen	rs80357729
ebi	rs80357729
HLI	rs80357729
Exac	rs80357729
Gnomad	rs80357729
Varsome	rs80357729
LitVar	rs80357729
Map	rs80357729
PheGenI	rs80357729
Biobank	rs80357729
1000 genomes	rs80357729
hgdp	rs80357729
ensembl	rs80357729
geneview	rs80357729
scholar	rs80357729
google	rs80357729
pharmgkb	rs80357729
gwascentral	rs80357729
openSNP	rs80357729
23andMe	rs80357729
SNPshot	rs80357729
SNPdbe	rs80357729
MSV3d	rs80357729
GWAS Ctlg	rs80357729

Max Magnitude

6

rs80357729, also known as 3746insA, c.3627_3628insA and p.Leu1209_Glu1210?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357729(A;A)
Alt	rs80357729(A;A)
Reference	Rs80357729(-;-)
Significance	Pathogenic
Disease	Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided
Reversed	1
HGVS	NC_000017.10:g.41243921dupT
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000031115.7, RCV000048263.4, RCV000130022.3, RCV000301326.1,