rs80357526

minus

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

Make rs80357526(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43093575

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357526
dbSNP (classic)	rs80357526
ClinGen	rs80357526
ebi	rs80357526
HLI	rs80357526
Exac	rs80357526
Gnomad	rs80357526
Varsome	rs80357526
LitVar	rs80357526
Map	rs80357526
PheGenI	rs80357526
Biobank	rs80357526
1000 genomes	rs80357526
hgdp	rs80357526
ensembl	rs80357526
geneview	rs80357526
scholar	rs80357526
google	rs80357526
pharmgkb	rs80357526
gwascentral	rs80357526
openSNP	rs80357526
23andMe	rs80357526
SNPshot	rs80357526
SNPdbe	rs80357526
MSV3d	rs80357526
GWAS Ctlg	rs80357526

Max Magnitude

6

rs80357526, also known as 2072del4, c.1953_1956delGAAA and p.Lys651_Lys652?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

23andMe name: i5009905

ClinVar
Risk	rs80357526(-;-)
Alt	rs80357526(-;-)
Reference	Rs80357526(GAAA;GAAA)
Significance	Pathogenic
Disease	Breast-ovarian cancer not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1 not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Reversed	1
HGVS	NC_000017.10:g.41245592_41245595delTTTC
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000031016.9, RCV000047653.6, RCV000131893.3, RCV000203663.2,