Genetic variant
rs587776701 a variant in the MSH3 gene
rs587776701 is a single-letter difference in the MSH3 gene, on chromosome 5. ClinVar, the public archive of variant interpretations, lists it as pathogenic: able to cause or contribute to disease. It has been reported in connection with Familial adenomatous polyposis 4 and Endometrial carcinoma, among others. Carrying it does not, on its own, mean you have or will develop any condition.
What is this?
Your DNA is a long sequence of four letters. At a few million positions, people commonly differ by a single letter; each of those positions is called a SNP (“snip”), and rs587776701 is the catalogue number of one of them, in the MSH3 gene. Which letters you carry there — one copy from each parent — is your genotype.
MSH3 (mutS homolog 3): The protein encoded by this gene forms a heterodimer with MSH2 to form MutS beta, part of the post-replicative DNA mismatch repair system. MutS beta initiates mismatch repair by binding to a mismatch and then forming a complex with MutL alpha heterodimer. This gene contains a polymorphic 9 bp tandem repeat sequence in the first exon.
Gene description from NCBI Gene
Why might it matter?
ClinVar records this variant as pathogenic, meaning able to cause or contribute to disease. A classification describes the variant, not you: what it means for one person depends on their genotype, their family history and often on other genes and circumstances.
Conditions it has been reported with
- Familial adenomatous polyposis 4
- Endometrial carcinoma
- Hereditary cancer-predisposing syndrome
- MSH3-related disorder
- Neoplasm
Listed in ClinVar submissions for this variant. Being listed is a report of an association, not a statement that the variant causes the condition in any given person.
Do I have this variant?
If you have taken a consumer DNA test (23andMe, AncestryDNA and similar), you can download its raw data file and check. Create a free account, upload the file, and this page will show the letters you carry at rs587776701, if your test read this position.
Connect this with your blood results
A gene is a fixed instruction; a blood test shows what your body is doing now. CheckMyBloods reads the two side by side, so a variant can be set against the markers it could plausibly affect.
Blood markers do not diagnose a genetic condition, and a variant does not explain a blood result on its own. Together, with symptoms and family history, they give a clinician context.
What should I do next?
- Find out whether you carry it. Reading about a variant says nothing about you until you know your genotype.
- Put it in context. Add your blood results, so the variant can be read against what your body is doing.
- Ask questions. Dr. Hemsworth, our AI assistant, can explain this variant and your results in plain English.
- Take anything that worries you to a professional. A GP or genetic counsellor can order a confirmatory test and interpret it with your history.
This page is general information drawn from public research databases. It cannot diagnose anything, and it is not a substitute for advice from a doctor or genetic counsellor who knows your history.
Technical details
- dbSNP ID
- rs587776701
- Gene
- MSH3
- Position
- chr5:80675096
- ClinVar classification
- Pathogenic
Sources
- dbSNP: rs587776701 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- NCBI Gene: MSH3
- Ensembl: MSH3