rs80357520

minus

Geno	Mag	Summary
(-;TA)	6	BRCA1 variant considered pathogenic for breast cancer
(TA;TA)	0	Normal

Make rs80357520(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43091771

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357520
dbSNP (classic)	rs80357520
ClinGen	rs80357520
ebi	rs80357520
HLI	rs80357520
Exac	rs80357520
Gnomad	rs80357520
Varsome	rs80357520
LitVar	rs80357520
Map	rs80357520
PheGenI	rs80357520
Biobank	rs80357520
1000 genomes	rs80357520
hgdp	rs80357520
ensembl	rs80357520
geneview	rs80357520
scholar	rs80357520
google	rs80357520
pharmgkb	rs80357520
gwascentral	rs80357520
openSNP	rs80357520
23andMe	rs80357520
SNPshot	rs80357520
SNPdbe	rs80357520
MSV3d	rs80357520
GWAS Ctlg	rs80357520

Max Magnitude

6

rs80357520, also known as 3878delTA, c.3759_3760delTA and p.Ser1253_Lys1254SerGlufs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357520(-;-)
Alt	rs80357520(-;-)
Reference	Rs80357520(TA;TA)
Significance	Pathogenic
Disease	Breast-ovarian cancer Familial cancer of breast Hereditary cancer-predisposing syndrome not provided
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1 Familial cancer of breast Hereditary cancer-predisposing syndrome not provided
Reversed	1
HGVS	NC_000017.10:g.41243788_41243789delTA
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000031125.6, RCV000048317.3, RCV000223389.1, RCV000254638.1,