rs398123120
A SNP in the APC gene on chromosome 5. Its most notable genotype is -;C: Likely miscall by Ancestry; otherwise, familial adenomatous polyposis mutation
- Gene
- APC
- Location
- Chr 5112,838,399 (GRCh38)
- Highest magnitude
- 3.0Important
- Tested on
- AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- -;CMost notableBadLikely miscall by Ancestry; otherwise, familial adenomatous polyposis mutation
- C;CGoodcommon in clinvar
On SNPedia: (-;C), (C;C). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Other APC SNPs
- rs2229992G;TFamilial Adenomatous PolyposisVery important
- rs62619935C;TFamilial Adenomatous PolyposisVery important
- rs121913331C;TFamilial Adenomatous PolyposisVery important
- rs121913333C;TFamilial Adenomatous PolyposisVery important
- rs137854568C;TFamilial Adenomatous PolyposisVery important
- rs137854569C;GFamilial Adenomatous PolyposisVery important
- rs137854572C;TFamilial Adenomatous PolyposisVery important
- rs137854575A;CFamilial Adenomatous PolyposisVery important
Notes
From SNPedia
Notes
aka c.2805delC (p.Tyr935Terfs) Reported by one submitter in ClinVar as pathogenic for familial adenomatous polyposis 1 (FAP1), an autosomal dominant disorder characterized by predisposition to cancer but with quite variable expressivity.
-;C
Seen too often in Ancestry data to be credible; but if from sequence or another source, this is considered a dominant mutation pathogenic for familial adenomatous polyposis type 1; see links via main rs-page.
Source and license
Adapted from rs398123120 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.