rs41293511

Orientation

plus

Stabilized

plus

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

Make rs41293511(C;C)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32363369

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs41293511
dbSNP (classic)	rs41293511
ClinGen	rs41293511
ebi	rs41293511
HLI	rs41293511
Exac	rs41293511
Gnomad	rs41293511
Varsome	rs41293511
LitVar	rs41293511
Map	rs41293511
PheGenI	rs41293511
Biobank	rs41293511
1000 genomes	rs41293511
hgdp	rs41293511
ensembl	rs41293511
geneview	rs41293511
scholar	rs41293511
google	rs41293511
pharmgkb	rs41293511
gwascentral	rs41293511
openSNP	rs41293511
23andMe	rs41293511
SNPshot	rs41293511
SNPdbe	rs41293511
MSV3d	rs41293511
GWAS Ctlg	rs41293511

Max Magnitude

6

rs41293511, also known as c.8167G>C or p.Asp2723His, represents a rare mutation in the BRCA2 gene.

The minor/rare allele is considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs41293511(C;C)
Alt	rs41293511(C;C)
Reference	Rs41293511(G;G)
Significance	Pathogenic
Disease	Hereditary breast and ovarian cancer syndrome not provided Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation	info
Gene	BRCA2
CLNDBN	Hereditary breast and ovarian cancer syndrome not provided Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome
Reversed	0
HGVS	NC_000013.10:g.32937506G>C
CLNSRC	Ambry Genetics ClinVar
CLNACC	RCV000045436.6, RCV000074555.7, RCV000077429.6, RCV000131674.3,