rs80359671
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;CAAAT) | 6 | BRCA2 variant considered pathogenic for breast cancer |
| (-;TCAAA) | 6 | BRCA2 variant considered pathogenic for breast cancer |
| (CAAAT;CAAAT) | 0 | common/normal |
| Make rs80359671(-;-) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 13 |
| Position | 32331004 |
| Gene | BRCA2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80359671 |
| dbSNP (classic) | rs80359671 |
| ClinGen | rs80359671 |
| ebi | rs80359671 |
| HLI | rs80359671 |
| Exac | rs80359671 |
| Gnomad | rs80359671 |
| Varsome | rs80359671 |
| LitVar | rs80359671 |
| Map | rs80359671 |
| PheGenI | rs80359671 |
| Biobank | rs80359671 |
| 1000 genomes | rs80359671 |
| hgdp | rs80359671 |
| ensembl | rs80359671 |
| geneview | rs80359671 |
| scholar | rs80359671 |
| rs80359671 | |
| pharmgkb | rs80359671 |
| gwascentral | rs80359671 |
| openSNP | rs80359671 |
| 23andMe | rs80359671 |
| SNPshot | rs80359671 |
| SNPdbe | rs80359671 |
| MSV3d | rs80359671 |
| GWAS Ctlg | rs80359671 |
| Merged from | Rs80359675 |
| Max Magnitude | 6 |
rs80359671, also known as 995del5, c.767_771delCAAAT and p.Thr256_Asn257?fs, represents a 5bp deletion in the BRCA2 gene considered pathogenic for breast cancer in ClinVar. An alternative rs# for this same deletion is rs80359675. The BRCA2 999del5 deletion has been associated with significantly increased risk for breast cancer as well as some other cancers, at least in certain populations; this mutation is also considered a founder mutation among people from Iceland. For more information, see OMIM 600185.0010.
| ClinVar | |
|---|---|
| Risk | rs80359671(-;-) rs80359671(TCAAA;TCAAA) |
| Alt | rs80359671(-;-) rs80359671(TCAAA;TCAAA) |
| Reference | Rs80359671(CAAAT;CAAAT) |
| Significance | Pathogenic |
| Disease | Breast-ovarian cancer Familial cancer of breast Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome not provided |
| Variation | info |
| Gene | BRCA2 |
| CLNDBN | Breast-ovarian cancer, familial 2 Familial cancer of breast Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome not provided |
| Reversed | 0 |
| HGVS | NC_000013.10:g.32905145_32905149delTCAAA |
| CLNSRC | Breast Cancer Information Core (BRCA2) OMIM Allelic Variant |
| CLNACC | RCV000009913.13, RCV000056288.6, RCV000131848.3, RCV000195405.2, RCV000212208.2, |
