rs80357624

minus

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

Make rs80357624(GA;GA)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43092275

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357624
dbSNP (classic)	rs80357624
ClinGen	rs80357624
ebi	rs80357624
HLI	rs80357624
Exac	rs80357624
Gnomad	rs80357624
Varsome	rs80357624
LitVar	rs80357624
Map	rs80357624
PheGenI	rs80357624
Biobank	rs80357624
1000 genomes	rs80357624
hgdp	rs80357624
ensembl	rs80357624
geneview	rs80357624
scholar	rs80357624
google	rs80357624
pharmgkb	rs80357624
gwascentral	rs80357624
openSNP	rs80357624
23andMe	rs80357624
SNPshot	rs80357624
SNPdbe	rs80357624
MSV3d	rs80357624
GWAS Ctlg	rs80357624

Max Magnitude

6

rs80357624, also known as 3374insGA, c.3255_3256insGA and p.Arg1085_Leu1086?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357624(GA;GA) rs80357624(A;A)
Alt	rs80357624(GA;GA) rs80357624(A;A)
Reference	Rs80357624(-;-)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer
Variation	info
Gene	BRCA1
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 1
Reversed	1
HGVS	NC_000017.10:g.41244293_41244294dupTC; NC_000017.10:g.41244293dupT
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000048110.2, RCV000143832.3, RCV000048111.2, RCV000112035.2,