rs180177102
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 7 | Fanconi anemia, complementation group N |
| (-;T) | 5 | PALB2-related cancer risk |
| (-;TT) | 5 | PALB2-related cancer risk |
| (T;T) | 0 | common in clinvar |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 23634954 |
| Gene | PALB2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs180177102 |
| dbSNP (classic) | rs180177102 |
| ClinGen | rs180177102 |
| ebi | rs180177102 |
| HLI | rs180177102 |
| Exac | rs180177102 |
| Gnomad | rs180177102 |
| Varsome | rs180177102 |
| LitVar | rs180177102 |
| Map | rs180177102 |
| PheGenI | rs180177102 |
| Biobank | rs180177102 |
| 1000 genomes | rs180177102 |
| hgdp | rs180177102 |
| ensembl | rs180177102 |
| geneview | rs180177102 |
| scholar | rs180177102 |
| rs180177102 | |
| pharmgkb | rs180177102 |
| gwascentral | rs180177102 |
| openSNP | rs180177102 |
| 23andMe | rs180177102 |
| SNPshot | rs180177102 |
| SNPdbe | rs180177102 |
| MSV3d | rs180177102 |
| GWAS Ctlg | rs180177102 |
| Max Magnitude | 7 |
rs180177102, also known as c.1592delT and p.Leu531Cysfs, is a mutation in the PALB2 gene on chromosome 16.
The deletion variant, rs180177102(-), has been found in a 2015 meta-analysis to lead to a combined increased relative risk for breast cancer of 5.3 (CI: 3.0 to 9.4).[PMID 26250988]
A 2016 publication study involving 42,000 breast cancer cases concluded that rs180177102(-) carriers had an odds ratio of 3.44 (CI:1.4-8.5; p=7.1×10e-5) and a 40% (CI: 18-77%) chance of developing the disease by age 70.10.1136/jmedgenet-2016-103839
This mutation appears to be renamed i4000488 by 23andMe.
| ClinVar | |
|---|---|
| Risk | Rs180177102(-;-) |
| Alt | Rs180177102(-;-) |
| Reference | Rs180177102(T;T) |
| Significance | Other |
| Disease | Breast cancer Familial cancer of breast Hereditary cancer-predisposing syndrome not provided |
| Variation | info |
| Gene | PALB2 |
| CLNDBN | Breast cancer, susceptibility to Familial cancer of breast Hereditary cancer-predisposing syndrome not provided |
| Reversed | 1 |
| HGVS | NC_000016.9:g.23646275delA |
| CLNSRC | OMIM Allelic Variant PALB2 database |
| CLNACC | RCV000001310.2, RCV000114482.2, RCV000132474.5, RCV000212797.2, |
[PMID 17287723] A recurrent mutation in PALB2 in Finnish cancer families.
[PMID 18628482] Penetrance analysis of the PALB2 c.1592delT founder mutation.
[PMID 19383810] The breast cancer susceptibility mutation PALB2 1592delT is associated with an aggressive tumor phenotype.
