rs80357717

minus

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

Make rs80357717(AT;AT)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43092823

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357717
dbSNP (classic)	rs80357717
ClinGen	rs80357717
ebi	rs80357717
HLI	rs80357717
Exac	rs80357717
Gnomad	rs80357717
Varsome	rs80357717
LitVar	rs80357717
Map	rs80357717
PheGenI	rs80357717
Biobank	rs80357717
1000 genomes	rs80357717
hgdp	rs80357717
ensembl	rs80357717
geneview	rs80357717
scholar	rs80357717
google	rs80357717
pharmgkb	rs80357717
gwascentral	rs80357717
openSNP	rs80357717
23andMe	rs80357717
SNPshot	rs80357717
SNPdbe	rs80357717
MSV3d	rs80357717
GWAS Ctlg	rs80357717

Max Magnitude

6

rs80357717, also known as 2826insAT, c.2707_2708insAT and p.Cys903?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357717(AT;AT)
Alt	rs80357717(AT;AT)
Reference	Rs80357717(-;-)
Significance	Pathogenic
Disease	Breast-ovarian cancer Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome not provided
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome not provided
Reversed	1
HGVS	NC_000017.10:g.41244841_41244842dupAT
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000031064.6, RCV000132203.2, RCV000459878.1, RCV000479257.1,