rs80357932

minus

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

Make rs80357932(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43093638

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357932
dbSNP (classic)	rs80357932
ClinGen	rs80357932
ebi	rs80357932
HLI	rs80357932
Exac	rs80357932
Gnomad	rs80357932
Varsome	rs80357932
LitVar	rs80357932
Map	rs80357932
PheGenI	rs80357932
Biobank	rs80357932
1000 genomes	rs80357932
hgdp	rs80357932
ensembl	rs80357932
geneview	rs80357932
scholar	rs80357932
google	rs80357932
pharmgkb	rs80357932
gwascentral	rs80357932
openSNP	rs80357932
23andMe	rs80357932
SNPshot	rs80357932
SNPdbe	rs80357932
MSV3d	rs80357932
GWAS Ctlg	rs80357932

Max Magnitude

6

rs80357932, also known as 2011insT, c.1892_1893insT and p.Leu631?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357932(T;T)
Alt	rs80357932(T;T)
Reference	Rs80357932(-;-)
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.41245656dupA
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000047622.3, RCV000111721.3, RCV000213327.1,