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.