rs41293513

Orientation

plus

Stabilized

plus

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

Make rs41293513(C;C)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32363370

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs41293513
dbSNP (classic)	rs41293513
ClinGen	rs41293513
ebi	rs41293513
HLI	rs41293513
Exac	rs41293513
Gnomad	rs41293513
Varsome	rs41293513
LitVar	rs41293513
Map	rs41293513
PheGenI	rs41293513
Biobank	rs41293513
1000 genomes	rs41293513
hgdp	rs41293513
ensembl	rs41293513
geneview	rs41293513
scholar	rs41293513
google	rs41293513
pharmgkb	rs41293513
gwascentral	rs41293513
openSNP	rs41293513
23andMe	rs41293513
SNPshot	rs41293513
SNPdbe	rs41293513
MSV3d	rs41293513
GWAS Ctlg	rs41293513

Max Magnitude

6

aka c.8168A>T (p.Asp2723Val) and also c.8168A>C (p.Asp2723Ala) as well as c.8168A>G (p.Asp2723Gly)

All three are classified as BRCA2 gene pathogenic mutations for breast cancer based on likelihood cited in ClinVar and in [PMID 29394989]

ClinVar
Risk	rs41293513(C;C) rs41293513(G;G) rs41293513(T;T)
Alt	rs41293513(C;C) rs41293513(G;G) rs41293513(T;T)
Reference	Rs41293513(A;A)
Significance	Pathogenic
Disease	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer not provided Hereditary cancer-predisposing syndrome Familial cancer of breast
Variation	info
Gene	BRCA2
CLNDBN	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 2 not provided Hereditary cancer-predisposing syndrome Familial cancer of breast
Reversed	0
HGVS	NC_000013.10:g.32937507A>C; NC_000013.10:g.32937507A>G; NC_000013.10:g.32937507A>T
CLNSRC	ClinVar Ambry Genetics
CLNACC	RCV000045437.5, RCV000113879.1, RCV000200976.2, RCV000218818.1, RCV000031724.6, RCV000045438.2, RCV000131682.3, RCV000216099.1, RCV000129267.3, RCV000205165.2, RCV000216158.1,