rs80359302
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;GAAAA) | 6 | BRCA2 variant considered pathogenic for breast cancer |
(AAAAG;AAAAG) | 0 | common in clinvar |
(GAAAA;GAAAA) | 0 | common in clinvar |
Make rs80359302(-;-) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 32333233 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs80359302 |
dbSNP (classic) | rs80359302 |
ClinGen | rs80359302 |
ebi | rs80359302 |
HLI | rs80359302 |
Exac | rs80359302 |
Gnomad | rs80359302 |
Varsome | rs80359302 |
LitVar | rs80359302 |
Map | rs80359302 |
PheGenI | rs80359302 |
Biobank | rs80359302 |
1000 genomes | rs80359302 |
hgdp | rs80359302 |
ensembl | rs80359302 |
geneview | rs80359302 |
scholar | rs80359302 |
rs80359302 | |
pharmgkb | rs80359302 |
gwascentral | rs80359302 |
openSNP | rs80359302 |
23andMe | rs80359302 |
SNPshot | rs80359302 |
SNPdbe | rs80359302 |
MSV3d | rs80359302 |
GWAS Ctlg | rs80359302 |
Max Magnitude | 6 |
rs80359302, also known as 1983del5, c.1755_1759delGAAAA and p.Lys585_Thr587?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar | |
---|---|
Risk | rs80359302(-;-) |
Alt | rs80359302(-;-) |
Reference | Rs80359302(AAAAG;AAAAG) |
Significance | Pathogenic |
Disease | Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided |
Variation | info |
Gene | BRCA2 |
CLNDBN | Breast-ovarian cancer, familial 2 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided |
Reversed | 0 |
HGVS | NC_000013.10:g.32907370_32907374delGAAAA |
CLNSRC | Breast Cancer Information Core (BRCA2) |
CLNACC | RCV000031335.7, RCV000074514.7, RCV000131055.4, RCV000212215.2, |