rs80359365
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common/normal |
(-;A) | 6 | BRCA2 variant considered pathogenic for breast cancer |
(-;AAAA) | 6 | BRCA2 variant considered pathogenic for breast cancer |
(-;G) | 6 | BRCA2 variant considered pathogenic for breast cancer |
(A;A) | 0 | common in clinvar |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 32337312 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs80359365 |
dbSNP (classic) | rs80359365 |
ClinGen | rs80359365 |
ebi | rs80359365 |
HLI | rs80359365 |
Exac | rs80359365 |
Gnomad | rs80359365 |
Varsome | rs80359365 |
LitVar | rs80359365 |
Map | rs80359365 |
PheGenI | rs80359365 |
Biobank | rs80359365 |
1000 genomes | rs80359365 |
hgdp | rs80359365 |
ensembl | rs80359365 |
geneview | rs80359365 |
scholar | rs80359365 |
rs80359365 | |
pharmgkb | rs80359365 |
gwascentral | rs80359365 |
openSNP | rs80359365 |
23andMe | rs80359365 |
SNPshot | rs80359365 |
SNPdbe | rs80359365 |
MSV3d | rs80359365 |
GWAS Ctlg | rs80359365 |
Max Magnitude | 6 |
rs80359365, also known as c.2954_2957delAAAA, c.2957delA, 3185insG, c.2957_2958insG, c.2957dupA and p.Asn986?fs, represents at least three variants in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar | |
---|---|
Risk | Rs80359365(A;A) rs80359365(G;G) |
Alt | Rs80359365(A;A) rs80359365(G;G) |
Reference | Rs80359365(-;-) |
Significance | Pathogenic |
Disease | Breast-ovarian cancer Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome not provided |
Variation | info |
Gene | BRCA2 |
CLNDBN | Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome not provided |
Reversed | 0 |
HGVS | NC_000013.10:g.32911449_32911450insG; NC_000013.10:g.32911449dupA |
CLNSRC | Breast Cancer Information Core (BRCA2) |
CLNACC | RCV000031392.6, RCV000131097.3, RCV000463291.1, RCV000482218.1, RCV000044094.4, RCV000077700.5, RCV000160274.3, RCV000213454.1, |