rs120074205

plus

Geno	Mag	Summary
(-;-)	0	common in clinvar
(-;G)	6	BRCA2 variant considered pathogenic for breast cancer

Make rs120074205(G;G)

Reference

GRCh38 38.1/142

Chromosome

13

Position

32326255

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs120074205
dbSNP (classic)	rs120074205
ClinGen	rs120074205
ebi	rs120074205
HLI	rs120074205
Exac	rs120074205
Gnomad	rs120074205
Varsome	rs120074205
LitVar	rs120074205
Map	rs120074205
PheGenI	rs120074205
Biobank	rs120074205
1000 genomes	rs120074205
hgdp	rs120074205
ensembl	rs120074205
geneview	rs120074205
scholar	rs120074205
google	rs120074205
pharmgkb	rs120074205
gwascentral	rs120074205
openSNP	rs120074205
23andMe	rs120074205
SNPshot	rs120074205
SNPdbe	rs120074205
MSV3d	rs120074205
GWAS Ctlg	rs120074205

Max Magnitude

6

rs120074205, also known as 717insG, c.489_490insG and p.Ser163_Leu164?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs120074205(G;G)
Alt	rs120074205(G;G)
Reference	Rs120074205(-;-)
Significance	Pathogenic
Disease	Breast-ovarian cancer Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Variation	info
Gene	BRCA2
CLNDBN	Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Reversed	0
HGVS	NC_000013.10:g.32900392_32900393insG
CLNSRC	Breast Cancer Information Core (BRCA2)
CLNACC	RCV000113677.2, RCV000219354.1, RCV000227690.1,