rs80359284
From SNPedia
Orientation | plus |
Stabilized | 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 |
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, |