rs180177132
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 7 | Fanconi anemia, complementation group N |
| (A;G) | 4 | 4x increased risk of breast cancer |
| (G;G) | 0 | common in clinvar |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 23621362 |
| Gene | PALB2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs180177132 |
| dbSNP (classic) | rs180177132 |
| ClinGen | rs180177132 |
| ebi | rs180177132 |
| HLI | rs180177132 |
| Exac | rs180177132 |
| Gnomad | rs180177132 |
| Varsome | rs180177132 |
| LitVar | rs180177132 |
| Map | rs180177132 |
| PheGenI | rs180177132 |
| Biobank | rs180177132 |
| 1000 genomes | rs180177132 |
| hgdp | rs180177132 |
| ensembl | rs180177132 |
| geneview | rs180177132 |
| scholar | rs180177132 |
| rs180177132 | |
| pharmgkb | rs180177132 |
| gwascentral | rs180177132 |
| openSNP | rs180177132 |
| 23andMe | rs180177132 |
| SNPshot | rs180177132 |
| SNPdbe | rs180177132 |
| MSV3d | rs180177132 |
| GWAS Ctlg | rs180177132 |
| Max Magnitude | 7 |
rs180177132, also known as c.3113G>A or p.Trp1038*, represents a very rare mutation in the PALB2 gene on chromosome 16.
A 2016 publication study involving 42,000 breast cancer cases concluded that rs180177132(A) carriers had an odds ratio of 4.2 (CI:1.8-9.6; p=6.9×10e-8) and a 95% (CI: 44-99%) chance of developing the disease by age 70.10.1136/jmedgenet-2016-103839
| ClinVar | |
|---|---|
| Risk | Rs180177132(A;A) |
| Alt | Rs180177132(A;A) |
| Reference | Rs180177132(G;G) |
| Significance | Other |
| Disease | Familial cancer of breast Hereditary cancer-predisposing syndrome Breast cancer not provided |
| Variation | info |
| Gene | PALB2 |
| CLNDBN | Familial cancer of breast Hereditary cancer-predisposing syndrome Breast cancer, susceptibility to not provided |
| Reversed | 1 |
| HGVS | NC_000016.9:g.23632683C>T |
| CLNSRC | OMIM Allelic Variant PALB2 database |
| CLNACC | RCV000114591.11, RCV000116096.9, RCV000144703.3, RCV000212822.3, |
[PMID 17200668
] PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene.
[PMID 18302019] Analysis of FANCB and FANCN/PALB2 fanconi anemia genes in BRCA1/2-negative Spanish breast cancer families.
[PMID 21182766] A PALB2 mutation associated with high risk of breast cancer.
[PMID 21285249] Contribution of inherited mutations in the BRCA2-interacting protein PALB2 to familial breast cancer.
[PMID 21409391] BRIP1, PALB2, and RAD51C mutation analysis reveals their relative importance as genetic susceptibility factors for breast cancer.
