rs28897759
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in complete genomics |
| (A;T) | 5.5 | BRCA2 variant, possibly causal mutation but not definite |
| Make rs28897759(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 13 |
| Position | 32394803 |
| Gene | BRCA2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs28897759 |
| dbSNP (classic) | rs28897759 |
| ClinGen | rs28897759 |
| ebi | rs28897759 |
| HLI | rs28897759 |
| Exac | rs28897759 |
| Gnomad | rs28897759 |
| Varsome | rs28897759 |
| LitVar | rs28897759 |
| Map | rs28897759 |
| PheGenI | rs28897759 |
| Biobank | rs28897759 |
| 1000 genomes | rs28897759 |
| hgdp | rs28897759 |
| ensembl | rs28897759 |
| geneview | rs28897759 |
| scholar | rs28897759 |
| rs28897759 | |
| pharmgkb | rs28897759 |
| gwascentral | rs28897759 |
| openSNP | rs28897759 |
| 23andMe | rs28897759 |
| SNPshot | rs28897759 |
| SNPdbe | rs28897759 |
| MSV3d | rs28897759 |
| GWAS Ctlg | rs28897759 |
| Max Magnitude | 5.5 |
BRCA2 Asn3124Ile or N3124I mutation; aka c.9371A>T. The significance is unclear; it is not listed as a causal mutation for breast cancer in UMD, and there is conflicting evidence in ClinVar, with some labs indicating it is pathogenic but others reporting it is of unknown significance.
This variant meets the criteria published in 2013 by the ACMG regarding incidental findings in exome or genome sequencing, as a variant that they do recommend informing a patient about.[PMID 23788249
]
Classified as a BRCA2 gene pathogenic mutation for breast cancer based on likelihood in [PMID 29394989].
Note that both ExAC and ClinVar also mention c.9371A>G (p.Asn3124Ser), but the pathogenicity of this variant is not reported.
[PMID 18724707] Computational and structural investigation of deleterious functional SNPs in breast cancer BRCA2 gene
| ClinVar | |
|---|---|
| Risk | rs28897759(G;G) rs28897759(T;T) |
| Alt | rs28897759(G;G) rs28897759(T;T) |
| Reference | Rs28897759(A;A) |
| Significance | Other |
| Disease | Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified |
| Variation | info |
| Gene | BRCA2 |
| CLNDBN | Breast-ovarian cancer, familial 2 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified |
| Reversed | 0 |
| HGVS | NC_000013.10:g.32968940A>T |
| CLNSRC | Ambry Genetics ClinVar |
| CLNACC | RCV000031816.6, RCV000045802.4, RCV000130337.3, RCV000176516.3, |
