rs80358981

Orientation

plus

Stabilized

plus

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

Make rs80358981(T;T)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32356550

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80358981
dbSNP (classic)	rs80358981
ClinGen	rs80358981
ebi	rs80358981
HLI	rs80358981
Exac	rs80358981
Gnomad	rs80358981
Varsome	rs80358981
LitVar	rs80358981
Map	rs80358981
PheGenI	rs80358981
Biobank	rs80358981
1000 genomes	rs80358981
hgdp	rs80358981
ensembl	rs80358981
geneview	rs80358981
scholar	rs80358981
google	rs80358981
pharmgkb	rs80358981
gwascentral	rs80358981
openSNP	rs80358981
23andMe	rs80358981
SNPshot	rs80358981
SNPdbe	rs80358981
MSV3d	rs80358981
GWAS Ctlg	rs80358981

Max Magnitude

6

rs80358981, also known as R2520X, c.7558C>T and p.Arg2520Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80358981(T;T)
Alt	rs80358981(T;T)
Reference	Rs80358981(C;C)
Significance	Pathogenic
Disease	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Neoplasm of breast Hereditary cancer-predisposing syndrome Breast-ovarian cancer not provided
Variation	info
Gene	BRCA2
CLNDBN	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 2 Neoplasm of breast Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial 1 not provided
Reversed	0
HGVS	NC_000013.10:g.32930687C>T
CLNSRC	Inc.
CLNACC	RCV000045244.6, RCV000077405.6, RCV000148425.1, RCV000162645.3, RCV000210182.1, RCV000217859.2,