rs80359212

Orientation

plus

Stabilized

plus

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

Make rs80359212(T;T)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32394814

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80359212
dbSNP (classic)	rs80359212
ClinGen	rs80359212
ebi	rs80359212
HLI	rs80359212
Exac	rs80359212
Gnomad	rs80359212
Varsome	rs80359212
LitVar	rs80359212
Map	rs80359212
PheGenI	rs80359212
Biobank	rs80359212
1000 genomes	rs80359212
hgdp	rs80359212
ensembl	rs80359212
geneview	rs80359212
scholar	rs80359212
google	rs80359212
pharmgkb	rs80359212
gwascentral	rs80359212
openSNP	rs80359212
23andMe	rs80359212
SNPshot	rs80359212
SNPdbe	rs80359212
MSV3d	rs80359212
GWAS Ctlg	rs80359212

Max Magnitude

6

rs80359212, also known as R3128X, c.9382C>T and p.Arg3128Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80359212(T;T)
Alt	rs80359212(T;T)
Reference	Rs80359212(C;C)
Significance	Pathogenic
Disease	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided Neoplasm of breast Familial cancer of breast
Variation	info
Gene	BRCA2
CLNDBN	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome not provided Neoplasm of breast Familial cancer of breast
Reversed	0
HGVS	NC_000013.10:g.32968951C>T
CLNSRC	HGMD
CLNACC	RCV000045807.5, RCV000077469.10, RCV000131048.3, RCV000160169.3, RCV000240732.3, RCV000474912.1,