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rs180177102

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 7 Fanconi anemia, complementation group N
(-;T) 4 3 to 5 fold increase in relative risk for breast cancer
(T;T) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome16
Position23634954
GenePALB2
is asnp
is mentioned by
dbSNPrs180177102
ebirs180177102
HLIrs180177102
Exacrs180177102
Varsomers180177102
Maprs180177102
PheGenIrs180177102
hapmaprs180177102
1000 genomesrs180177102
hgdprs180177102
ensemblrs180177102
gopubmedrs180177102
geneviewrs180177102
scholarrs180177102
googlers180177102
pharmgkbrs180177102
gwascentralrs180177102
openSNPrs180177102
23andMers180177102
23andMe allrs180177102
SNP Nexus

SNPshotrs180177102
SNPdbers180177102
MSV3drs180177102
GWAS Ctlgrs180177102
Max Magnitude7

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, RCV000212797.1,


[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.