rs80359675
| Merged into | rs80359671 |
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;TCAAA) | 6 | BRCA2 variant considered pathogenic for breast cancer |
| (CAAAT;CAAAT) | 0 | common in clinvar |
| (TCAAA;TCAAA) | 0 | common in clinvar |
| Make rs80359675(-;-) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 13 |
| Position | 32331008 |
| Gene | BRCA2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80359675 |
| dbSNP (classic) | rs80359675 |
| ClinGen | rs80359675 |
| ebi | rs80359675 |
| HLI | rs80359675 |
| Exac | rs80359675 |
| Gnomad | rs80359675 |
| Varsome | rs80359675 |
| LitVar | rs80359675 |
| Map | rs80359675 |
| PheGenI | rs80359675 |
| Biobank | rs80359675 |
| 1000 genomes | rs80359675 |
| hgdp | rs80359675 |
| ensembl | rs80359675 |
| geneview | rs80359675 |
| scholar | rs80359675 |
| rs80359675 | |
| pharmgkb | rs80359675 |
| gwascentral | rs80359675 |
| openSNP | rs80359675 |
| 23andMe | rs80359675 |
| SNPshot | rs80359675 |
| SNPdbe | rs80359675 |
| MSV3d | rs80359675 |
| GWAS Ctlg | rs80359675 |
| Status | Merged into rs80359671 |
| Max Magnitude | 6 |
rs80359675, also known as 999del5, c.771_775delTCAAA and p.Asn257_Arg259?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.rs80359675, aka 999del5, represents a 5bp deletion in the BRCA2 gene on chromosome 13. An alternative rs# for this same deletion is rs80359671. 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. For more information, see OMIM 600185.0010.
23andMe appears to have renamed this SNP as either i4000466, i5009236, i5053894 and/or i5009235. For the sake of 23andMe customers, it would be great if someone with insider knowledge of what exactly each of these represents would contact us.
| ClinVar | |
|---|---|
| Risk | |
| Alt | |
| Reference | Rs80359675(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 | RCV000009913.12, RCV000056288.6, RCV000131848.3, RCV000195405.1, RCV000212208.2, |
