rs276174814
From SNPedia
| Merged into | rs276174813 |
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;CTTAT) | 6 | BRCA2 variant considered pathogenic for breast cancer |
| (-;TTTAT) | 6 | BRCA2 variant considered pathogenic for breast cancer |
| (ATCTT;ATCTT) | 0 | common in clinvar |
| (CTTAT;CTTAT) | 0 | common in clinvar |
| Make rs276174814(-;-) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 13 |
| Position | 32333274 |
| Gene | BRCA2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs276174814 |
| dbSNP (classic) | rs276174814 |
| ClinGen | rs276174814 |
| ebi | rs276174814 |
| HLI | rs276174814 |
| Exac | rs276174814 |
| Gnomad | rs276174814 |
| Varsome | rs276174814 |
| LitVar | rs276174814 |
| Map | rs276174814 |
| PheGenI | rs276174814 |
| Biobank | rs276174814 |
| 1000 genomes | rs276174814 |
| hgdp | rs276174814 |
| ensembl | rs276174814 |
| geneview | rs276174814 |
| scholar | rs276174814 |
| rs276174814 | |
| pharmgkb | rs276174814 |
| gwascentral | rs276174814 |
| openSNP | rs276174814 |
| 23andMe | rs276174814 |
| SNPshot | rs276174814 |
| SNPdbe | rs276174814 |
| MSV3d | rs276174814 |
| GWAS Ctlg | rs276174814 |
| Status | Merged into rs276174813 |
| Max Magnitude | 6 |
rs276174814, also known as 2024del5, c.1796_1800delTTTAT and p.Ser599_Tyr600?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
| ClinVar | |
|---|---|
| Risk | |
| Alt | |
| Reference | Rs276174814(ATCTT;ATCTT) |
| Significance | Pathogenic |
| Disease | Breast-ovarian cancer not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome |
| Variation | info |
| Gene | BRCA2 |
| CLNDBN | Breast-ovarian cancer, familial 2 not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome |
| Reversed | 0 |
| HGVS | NC_000013.10:g.32907411_32907415delCTTAT |
| CLNSRC | Breast Cancer Information Core (BRCA2) |
| CLNACC | RCV000031337.7, RCV000043887.5, RCV000129987.3, RCV000168232.3, |
