rs276174859
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AG;TC) | 6 | BRCA2 variant considered pathogenic for breast cancer |
(TC;TC) | 0 | common in clinvar |
Make rs276174859(AG;AG) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 32339964 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs276174859 |
dbSNP (classic) | rs276174859 |
ClinGen | rs276174859 |
ebi | rs276174859 |
HLI | rs276174859 |
Exac | rs276174859 |
Gnomad | rs276174859 |
Varsome | rs276174859 |
LitVar | rs276174859 |
Map | rs276174859 |
PheGenI | rs276174859 |
Biobank | rs276174859 |
1000 genomes | rs276174859 |
hgdp | rs276174859 |
ensembl | rs276174859 |
geneview | rs276174859 |
scholar | rs276174859 |
rs276174859 | |
pharmgkb | rs276174859 |
gwascentral | rs276174859 |
openSNP | rs276174859 |
23andMe | rs276174859 |
SNPshot | rs276174859 |
SNPdbe | rs276174859 |
MSV3d | rs276174859 |
GWAS Ctlg | rs276174859 |
Max Magnitude | 6 |
rs276174859, also known as F1870X, c.5609_5610delTCinsAG and p.Phe1870Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar | |
---|---|
Risk | rs276174859(AG;AG) |
Alt | rs276174859(AG;AG) |
Reference | Rs276174859(TC;TC) |
Significance | Pathogenic |
Disease | Fanconi anemia Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome Tumor susceptibility linked to germline BAP1 mutations not provided |
Variation | info |
Gene | BRCA2 |
CLNDBN | Fanconi anemia, complementation group D1 Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome Tumor susceptibility linked to germline BAP1 mutations not provided |
Reversed | 0 |
HGVS | NC_000013.10:g.32914101_32914102delTCinsAG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000009924.4, RCV000044694.4, RCV000113449.3, RCV000129595.2, RCV000214770.1, RCV000255347.1, |