rs41293477

plus

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

Make rs41293477(G;G)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32337513

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs41293477
dbSNP (classic)	rs41293477
ClinGen	rs41293477
ebi	rs41293477
HLI	rs41293477
Exac	rs41293477
Gnomad	rs41293477
Varsome	rs41293477
LitVar	rs41293477
Map	rs41293477
PheGenI	rs41293477
Biobank	rs41293477
1000 genomes	rs41293477
hgdp	rs41293477
ensembl	rs41293477
geneview	rs41293477
scholar	rs41293477
google	rs41293477
pharmgkb	rs41293477
gwascentral	rs41293477
openSNP	rs41293477
23andMe	rs41293477
SNPshot	rs41293477
SNPdbe	rs41293477
MSV3d	rs41293477
GWAS Ctlg	rs41293477

Max Magnitude

6

rs41293477, also known as L1053X, c.3158T>G, 3386T>G and p.Leu1053Ter, is a variant in the BRCA2 gene. The rare variant allele is considered pathogenic for breast cancer by three submitters to ClinVar.

ClinVar
Risk	rs41293477(G;G)
Alt	rs41293477(G;G)
Reference	Rs41293477(T;T)
Significance	Pathogenic
Disease	Breast-ovarian cancer Familial cancer of breast Hereditary cancer-predisposing syndrome not provided
Variation	info
Gene	BRCA2
CLNDBN	Breast-ovarian cancer, familial 2 Familial cancer of breast Hereditary cancer-predisposing syndrome not provided
Reversed	0
HGVS	NC_000013.10:g.32911650T>G
CLNSRC	ClinVar
CLNACC	RCV000031401.6, RCV000044127.2, RCV000162916.1, RCV000424640.1,