rs80358757

Orientation

plus

Stabilized

plus

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

Make rs80358757(A;A)

Make rs80358757(A;C)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32339699

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80358757
dbSNP (classic)	rs80358757
ClinGen	rs80358757
ebi	rs80358757
HLI	rs80358757
Exac	rs80358757
Gnomad	rs80358757
Varsome	rs80358757
LitVar	rs80358757
Map	rs80358757
PheGenI	rs80358757
Biobank	rs80358757
1000 genomes	rs80358757
hgdp	rs80358757
ensembl	rs80358757
geneview	rs80358757
scholar	rs80358757
google	rs80358757
pharmgkb	rs80358757
gwascentral	rs80358757
openSNP	rs80358757
23andMe	rs80358757
SNPshot	rs80358757
SNPdbe	rs80358757
MSV3d	rs80358757
GWAS Ctlg	rs80358757

Max Magnitude

6

rs80358757, also known as Q1782X, c.5344C>T and p.Gln1782Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80358757(A;A) rs80358757(G;G) rs80358757(T;T)
Alt	rs80358757(A;A) rs80358757(G;G) rs80358757(T;T)
Reference	Rs80358757(C;C)
Significance	Pathogenic
Disease	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome not specified 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 specified Familial cancer of breast
Reversed	0
HGVS	NC_000013.10:g.32913836C>A; NC_000013.10:g.32913836C>G; NC_000013.10:g.32913836C>T
CLNSRC	Ambry Genetics ClinVar
CLNACC	RCV000044636.3, RCV000113421.1, RCV000132498.2, RCV000421612.1, RCV000132502.2, RCV000044637.2, RCV000113422.3,