rs276174853
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;AATA) | 6 | BRCA2 variant considered pathogenic for breast cancer |
| (AATA;AATA) | 0 | common in clinvar |
| Make rs276174853(-;-) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 13 |
| Position | 32339471 |
| Gene | BRCA2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs276174853 |
| dbSNP (classic) | rs276174853 |
| ClinGen | rs276174853 |
| ebi | rs276174853 |
| HLI | rs276174853 |
| Exac | rs276174853 |
| Gnomad | rs276174853 |
| Varsome | rs276174853 |
| LitVar | rs276174853 |
| Map | rs276174853 |
| PheGenI | rs276174853 |
| Biobank | rs276174853 |
| 1000 genomes | rs276174853 |
| hgdp | rs276174853 |
| ensembl | rs276174853 |
| geneview | rs276174853 |
| scholar | rs276174853 |
| rs276174853 | |
| pharmgkb | rs276174853 |
| gwascentral | rs276174853 |
| openSNP | rs276174853 |
| 23andMe | rs276174853 |
| SNPshot | rs276174853 |
| SNPdbe | rs276174853 |
| MSV3d | rs276174853 |
| GWAS Ctlg | rs276174853 |
| Merged from | Rs752413577 |
| Max Magnitude | 6 |
rs276174853, also known as 5344delAATA, c.5116_5119delAATA and p.Asn1706_Thr1707?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
| ClinVar | |
|---|---|
| Risk | rs276174853(-;-) |
| Alt | rs276174853(-;-) |
| Reference | Rs276174853(AATA;AATA) |
| Significance | Pathogenic |
| Disease | Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome |
| Variation | info |
| Gene | BRCA2 |
| CLNDBN | Familial cancer of breast Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome |
| Reversed | 0 |
| HGVS | NC_000013.10:g.32913608_32913611delAATA |
| CLNSRC | Breast Cancer Information Core (BRCA2) |
| CLNACC | RCV000044561.3, RCV000077344.5, RCV000131076.3, |
