rs80357596

minus

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

Make rs80357596(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43092849

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357596
dbSNP (classic)	rs80357596
ClinGen	rs80357596
ebi	rs80357596
HLI	rs80357596
Exac	rs80357596
Gnomad	rs80357596
Varsome	rs80357596
LitVar	rs80357596
Map	rs80357596
PheGenI	rs80357596
Biobank	rs80357596
1000 genomes	rs80357596
hgdp	rs80357596
ensembl	rs80357596
geneview	rs80357596
scholar	rs80357596
google	rs80357596
pharmgkb	rs80357596
gwascentral	rs80357596
openSNP	rs80357596
23andMe	rs80357596
SNPshot	rs80357596
SNPdbe	rs80357596
MSV3d	rs80357596
GWAS Ctlg	rs80357596

Merged from

Rs80357891

Max Magnitude

6

rs80357596, also known as 2798del4, c.2679_2682delGAAA and p.Lys893_Lys894?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357596(AAAG;AAAG) rs80357596(-;-)
Alt	rs80357596(AAAG;AAAG) rs80357596(-;-)
Reference	Rs80357596(GAAA;GAAA)
Significance	Pathogenic
Disease	Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided
Reversed	1
HGVS	NC_000017.10:g.41244866_41244869delTTTC
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000031062.9, RCV000047925.4, RCV000131877.3, RCV000255129.2,