rs80357687

minus

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

Make rs80357687(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43091771

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357687
dbSNP (classic)	rs80357687
ClinGen	rs80357687
ebi	rs80357687
HLI	rs80357687
Exac	rs80357687
Gnomad	rs80357687
Varsome	rs80357687
LitVar	rs80357687
Map	rs80357687
PheGenI	rs80357687
Biobank	rs80357687
1000 genomes	rs80357687
hgdp	rs80357687
ensembl	rs80357687
geneview	rs80357687
scholar	rs80357687
google	rs80357687
pharmgkb	rs80357687
gwascentral	rs80357687
openSNP	rs80357687
23andMe	rs80357687
SNPshot	rs80357687
SNPdbe	rs80357687
MSV3d	rs80357687
GWAS Ctlg	rs80357687

Max Magnitude

6

rs80357687, also known as 3878insT, c.3759_3760insT and p.Ser1253_Lys1254?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357687(T;T)
Alt	rs80357687(T;T)
Reference	Rs80357687(-;-)
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.41243789dupA
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000048318.3, RCV000077130.5, RCV000164495.2,