rs80358474

Orientation

plus

Stabilized

plus

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

Make rs80358474(A;A)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32333310

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80358474
dbSNP (classic)	rs80358474
ClinGen	rs80358474
ebi	rs80358474
HLI	rs80358474
Exac	rs80358474
Gnomad	rs80358474
Varsome	rs80358474
LitVar	rs80358474
Map	rs80358474
PheGenI	rs80358474
Biobank	rs80358474
1000 genomes	rs80358474
hgdp	rs80358474
ensembl	rs80358474
geneview	rs80358474
scholar	rs80358474
google	rs80358474
pharmgkb	rs80358474
gwascentral	rs80358474
openSNP	rs80358474
23andMe	rs80358474
SNPshot	rs80358474
SNPdbe	rs80358474
MSV3d	rs80358474
GWAS Ctlg	rs80358474

Max Magnitude

6

rs80358474, also known as S611X, c.1832C>A and p.Ser611Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80358474(A;A) rs80358474(G;G) rs80358474(T;T)
Alt	rs80358474(A;A) rs80358474(G;G) rs80358474(T;T)
Reference	Rs80358474(C;C)
Significance	Pathogenic
Disease	Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided
Variation	info
Gene	BRCA2
CLNDBN	Breast-ovarian cancer, familial 2 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided
Reversed	0
HGVS	NC_000013.10:g.32907447C>A; NC_000013.10:g.32907447C>G
CLNSRC	Ambry Genetics ClinVar
CLNACC	RCV000031345.7, RCV000043906.5, RCV000131056.3, RCV000212216.2, RCV000213224.1, RCV000257225.2,