rs80358972

Orientation

plus

Stabilized

plus

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

Make rs80358972(T;T)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32356472

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80358972
ClinGen	rs80358972
ebi	rs80358972
HLI	rs80358972
Exac	rs80358972
Varsome	rs80358972
Map	rs80358972
PheGenI	rs80358972
hapmap	rs80358972
1000 genomes	rs80358972
hgdp	rs80358972
ensembl	rs80358972
gopubmed	rs80358972
geneview	rs80358972
scholar	rs80358972
google	rs80358972
pharmgkb	rs80358972
gwascentral	rs80358972
openSNP	rs80358972
23andMe	rs80358972
23andMe all	rs80358972
SNP Nexus
SNPshot	rs80358972
SNPdbe	rs80358972
MSV3d	rs80358972
GWAS Ctlg	rs80358972

Max Magnitude

6

rs80358972, also known as R2494X, c.7480C>T and p.Arg2494Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80358972(A;A) rs80358972(T;T)
Alt	rs80358972(A;A) rs80358972(T;T)
Reference	Rs80358972(C;C)
Significance	Pathogenic
Disease	Breast-ovarian cancer not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Variation	info
Gene	BRCA2
CLNDBN	Breast-ovarian cancer, familial 2 not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Reversed	0
HGVS	NC_000013.10:g.32930609C>T
CLNSRC	Ambry Genetics ClinVar
CLNACC	RCV000031681.8, RCV000045227.6, RCV000131084.3, RCV000225750.2,