rs80358557

Orientation

plus

Stabilized

plus

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

Make rs80358557(T;T)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32337464

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80358557
dbSNP (old)	rs80358557
ClinGen	rs80358557
ebi	rs80358557
HLI	rs80358557
Exac	rs80358557
Gnomad	rs80358557
Varsome	rs80358557
Map	rs80358557
PheGenI	rs80358557
Biobank	rs80358557
1000 genomes	rs80358557
hgdp	rs80358557
ensembl	rs80358557
gopubmed	rs80358557
geneview	rs80358557
scholar	rs80358557
google	rs80358557
pharmgkb	rs80358557
gwascentral	rs80358557
openSNP	rs80358557
23andMe	rs80358557
23andMe all	rs80358557
SNP Nexus
SNPshot	rs80358557
SNPdbe	rs80358557
MSV3d	rs80358557
GWAS Ctlg	rs80358557

Max Magnitude

6

rs80358557, also known as Q1037X, c.3109C>T and p.Gln1037Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80358557(A;A) rs80358557(T;T)
Alt	rs80358557(A;A) rs80358557(T;T)
Reference	Rs80358557(C;C)
Significance	Pathogenic
Disease	not specified Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome not provided Hereditary cancer-predisposing syndrome
Variation	info
Gene	BRCA2
CLNDBN	not specified Breast-ovarian cancer, familial 2 Hereditary breast and ovarian cancer syndrome not provided Hereditary cancer-predisposing syndrome
Reversed	0
HGVS	NC_000013.10:g.32911601C>A; NC_000013.10:g.32911601C>T
CLNSRC	Breast Cancer Information Core (BRCA2)
CLNACC	RCV000480866.1, RCV000031400.6, RCV000044120.5, RCV000160056.2, RCV000216711.1,