rs80359284

plus

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

Make rs80359284(G;G)

Reference

GRCh38 38.1/142

Chromosome

13

Position

32332886

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80359284
dbSNP (classic)	rs80359284
ClinGen	rs80359284
ebi	rs80359284
HLI	rs80359284
Exac	rs80359284
Gnomad	rs80359284
Varsome	rs80359284
LitVar	rs80359284
Map	rs80359284
PheGenI	rs80359284
Biobank	rs80359284
1000 genomes	rs80359284
hgdp	rs80359284
ensembl	rs80359284
geneview	rs80359284
scholar	rs80359284
google	rs80359284
pharmgkb	rs80359284
gwascentral	rs80359284
openSNP	rs80359284
23andMe	rs80359284
SNPshot	rs80359284
SNPdbe	rs80359284
MSV3d	rs80359284
GWAS Ctlg	rs80359284

Max Magnitude

6

rs80359284, also known as 1636insG, c.1408_1409insG and p.Glu470?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

Note: we have received information from a Promethease user that indicates 23andMe and possibly other "DNA-chip based" companies are prone to making an error for this mutation; the raw data from such companies will say the rs80359284 mutation is present, but when clinically tested, it turns out that a (benign, harmless) variant known as rs750341436 is present at this same position in the genome instead. We do not know how often this mistake occurs and at this time we have only a single report of this happening.

ClinVar
Risk	rs80359284(G;G)
Alt	rs80359284(G;G)
Reference	Rs80359284(-;-)
Significance	Pathogenic
Disease	Breast-ovarian cancer Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Variation	info
Gene	BRCA2
CLNDBN	Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Reversed	0
HGVS	NC_000013.10:g.32907023dupG
CLNSRC	Breast Cancer Information Core (BRCA2)
CLNACC	RCV000112918.3, RCV000214396.1, RCV000476887.1,