rs80359877
From SNPedia
					| Merged into | rs80357696 | 
| Orientation | minus | 
| Stabilized | minus | 
| Geno | Mag | Summary | 
|---|---|---|
| (-;TGTCCCATCTG) | 6 | BRCA1 variant considered pathogenic for breast cancer | 
| (TGTCCCATCTG;TGTCCCATCTG) | 0 | common in clinvar | 
| Make rs80359877(-;-) | 
| Reference | GRCh38 38.1/141 | 
| Chromosome | 17 | 
| Position | 43124017 | 
| Gene | BRCA1, NBR2 | 
| is a | snp | 
| is | mentioned by | 
| dbSNP | rs80359877 | 
| dbSNP (classic) | rs80359877 | 
| ClinGen | rs80359877 | 
| ebi | rs80359877 | 
| HLI | rs80359877 | 
| Exac | rs80359877 | 
| Gnomad | rs80359877 | 
| Varsome | rs80359877 | 
| LitVar | rs80359877 | 
| Map | rs80359877 | 
| PheGenI | rs80359877 | 
| Biobank | rs80359877 | 
| 1000 genomes | rs80359877 | 
| hgdp | rs80359877 | 
| ensembl | rs80359877 | 
| geneview | rs80359877 | 
| scholar | rs80359877 | 
| rs80359877 | |
| pharmgkb | rs80359877 | 
| gwascentral | rs80359877 | 
| openSNP | rs80359877 | 
| 23andMe | rs80359877 | 
| SNPshot | rs80359877 | 
| SNPdbe | rs80359877 | 
| MSV3d | rs80359877 | 
| GWAS Ctlg | rs80359877 | 
| Status | Merged into rs80357696 | 
| Max Magnitude | 6 | 
rs80359877, also known as 189del11, c.70_80del and p.Cys24_Cys27?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
| ClinVar | |
|---|---|
| Risk | |
| Alt | |
| Reference | Rs80359877(TGTCCCATCTG;TGTCCCATCTG) | 
| Significance | Pathogenic | 
| Disease | Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome | 
| Variation | info | 
| Gene | NBR2 BRCA1 | 
| CLNDBN | Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome | 
| Reversed | 1 | 
| HGVS | NC_000017.10:g.41276034_41276044delCAGATGGGACA | 
| CLNSRC | Breast Cancer Information Core (BRCA1) | 
| CLNACC | RCV000049106.3, RCV000111682.3, RCV000131391.3, | 


