rs180177102

A SNP in the PALB2 gene on chromosome 16. Its most notable genotype is -;-: Fanconi anemia, complementation group N

Gene
PALB2
Location
Chr 1623,634,954 (GRCh38)
Highest magnitude
7.0Very important
Tested on
AncestryDNA

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. -;-Most notableBadFanconi anemia, complementation group NVery important · 7.0
  2. -;ABadPALB2-related cancer riskVery important · 5.0
  3. -;TTBadPALB2-related cancer riskVery important · 5.0
  4. A;AGoodcommon in clinvarTypical · 0.0

SNPedia records rs180177102 on the minus strand: (-;-), (-;T), (-;TT), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Conditions, medicines and genes

Other PALB2 SNPs

All PALB2 SNPs

Notes

From SNPedia

Notes

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). 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. This mutation appears to be renamed i4000488 by 23andMe.

-;-

see discussion at PALB2

Source and license

Adapted from rs180177102 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.

SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.