rs80357914
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 0 | common in clinvar |
| (-;AG) | 6 | BRCA1 variant considered pathogenic for breast cancer |
| (-;G) | 6 | BRCA1 variant considered pathogenic for breast cancer |
| Make rs80357914(AG;AG) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 17 |
| Position | 43124027 |
| Gene | BRCA1, NBR2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80357914 |
| dbSNP (classic) | rs80357914 |
| ClinGen | rs80357914 |
| ebi | rs80357914 |
| HLI | rs80357914 |
| Exac | rs80357914 |
| Gnomad | rs80357914 |
| Varsome | rs80357914 |
| LitVar | rs80357914 |
| Map | rs80357914 |
| PheGenI | rs80357914 |
| Biobank | rs80357914 |
| 1000 genomes | rs80357914 |
| hgdp | rs80357914 |
| ensembl | rs80357914 |
| geneview | rs80357914 |
| scholar | rs80357914 |
| rs80357914 | |
| pharmgkb | rs80357914 |
| gwascentral | rs80357914 |
| openSNP | rs80357914 |
| 23andMe | rs80357914 |
| SNPshot | rs80357914 |
| SNPdbe | rs80357914 |
| MSV3d | rs80357914 |
| GWAS Ctlg | rs80357914 |
| Max Magnitude | 6 |
rs80357914, also known as 188insAG, c.68_69insAG and p.Glu23_Cys24?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar. More recently, dbSNP has decided that rs80357914 can also represent c.66_67delAG as well.
Note that dbSNP also lists c.69dupG as an alternate allele for rs80357914. One consequence of this is that since Ancestry.com does not reveal what exactly they are testing to their customers, when they report an "I" (insertion) for their users it is not known if they are reporting the c68_69insAG or the c.69dupG mutation. Since both are considered pathogenic, this may be a moot issue, but if someone with access to Illumina's or Ancestry's probe file for the DNA chip in use by them ever wishes to clarify which variant is being tested please contact us.
| ClinVar | |
|---|---|
| Risk | rs80357914(AG;AG) rs80357914(G;G) |
| Alt | rs80357914(AG;AG) rs80357914(G;G) |
| Reference | Rs80357914(-;-) |
| Significance | Pathogenic |
| Disease | Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome |
| Variation | info |
| Gene | NBR2 BRCA1 |
| CLNDBN | Familial cancer of breast Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome |
| Reversed | 1 |
| HGVS | NC_000017.10:g.41276045_41276046dupCT; NC_000017.10:g.41276045dupC |
| CLNSRC | Breast Cancer Information Core (BRCA1) |
| CLNACC | RCV000049096.2, RCV000143834.3, RCV000223371.1, RCV000257132.2, |
