rs276174825
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;CT) | 6 | BRCA2 variant considered pathogenic for breast cancer |
(CT;CT) | 0 | common in clinvar |
Make rs276174825(-;-) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 32319271 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs276174825 |
dbSNP (classic) | rs276174825 |
ClinGen | rs276174825 |
ebi | rs276174825 |
HLI | rs276174825 |
Exac | rs276174825 |
Gnomad | rs276174825 |
Varsome | rs276174825 |
LitVar | rs276174825 |
Map | rs276174825 |
PheGenI | rs276174825 |
Biobank | rs276174825 |
1000 genomes | rs276174825 |
hgdp | rs276174825 |
ensembl | rs276174825 |
geneview | rs276174825 |
scholar | rs276174825 |
rs276174825 | |
pharmgkb | rs276174825 |
gwascentral | rs276174825 |
openSNP | rs276174825 |
23andMe | rs276174825 |
SNPshot | rs276174825 |
SNPdbe | rs276174825 |
MSV3d | rs276174825 |
GWAS Ctlg | rs276174825 |
Max Magnitude | 6 |
rs276174825, also known as 490delCT, c.262_263delCT and p.Leu88Alafs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
Note: the 23andMe probe (i5009247) corresponding to this genotype is unreliable (prone to false results).
ClinVar | |
---|---|
Risk | rs276174825(-;-) |
Alt | rs276174825(-;-) |
Reference | Rs276174825(CT;CT) |
Significance | Pathogenic |
Disease | Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | BRCA2 |
CLNDBN | Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome |
Reversed | 0 |
HGVS | NC_000013.10:g.32893408_32893409delCT |
CLNSRC | Breast Cancer Information Core (BRCA2) |
CLNACC | RCV000044028.3, RCV000113331.5, RCV000162895.1, |