Sensitive

Lynch syndrome

PMS2 · rs587779329

Strength of the evidence

4 / 4

ClinVar classifies it as disease-causing (or likely), reviewed at 3 of 4 stars.

How this is scored

4: ClinVar disease-causing, reviewed by an expert panel or a guideline (3–4 stars). 3: ClinVar, several labs agreeing (2 stars), or a genetic study at p ≤ 10−50. 2: ClinVar from one lab (1 star), or p ≤ 10−20. 1: ClinVar submitted without criteria (0 stars), or genome-wide significance (p ≤ 5×10−8). The higher of the two counts. It says how solid the evidence is, not whether it matters for a particular person.

What ClinVar records

Classification Likely pathogenic for Lynch syndrome, Hereditary cancer-predisposing syndrome; reviewed by expert panel (3 of 4 stars, 4 submitters), last evaluated 2019-06-21. ClinVar record 91307 NM_000535.7(PMS2):c.163+2T>C

Classification Likely pathogenic for Hereditary cancer-predisposing syndrome; criteria provided, single submitter (1 of 4 stars, 1 submitter), last evaluated 2025-12-31. ClinVar record 1776812 NM_000535.7(PMS2):c.163+2T>A

Classification Pathogenic for Malignant lymphoma, large B-cell, diffuse; no assertion criteria provided (0 of 4 stars, 1 submitter), last evaluated 2023-12-04. ClinVar record 2671889 NM_000535.7(PMS2):c.163+2T>G

Change history MyGeneLog™ keeps a copy of every weekly release from 2026-10-19 and compares them. This position's classification has not changed since.

What this is ClinVar's aggregate record for this position (as of its 2026-10-19 release), not a result about you. A classification describes the variant against the condition named, as laboratories submitted it. Whether a person carries this variant, and what that would mean for them, is a question for a clinical test and a genetic counsellor.

What each result means

A/A No copy of the version ClinVar lists as likely disease-causing for Lynch syndrome. This is the usual result. (ClinVar VCV000091307, reviewed by expert panel)
A/G One copy of the version ClinVar lists as likely disease-causing for Lynch syndrome. Some conditions need only one copy; for others, one copy makes a person a carrier who is usually healthy but can pass it on. A genetic counsellor can say which applies. (ClinVar VCV000091307, reviewed by expert panel)
G/G Two copies of the version ClinVar lists as likely disease-causing for Lynch syndrome. A result like this should be confirmed by a medical genetic test and talked through with a doctor; consumer DNA files can misread rare variants. (ClinVar VCV000091307, reviewed by expert panel)

Source: ClinVar VCV000091307, reviewed by expert panel

Questions about rs587779329

What is rs587779329?

rs587779329 is a single position in the genome, in or near the PMS2 gene. Published research associates it with lynch syndrome. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs587779329 mean I will get this?

No. Common variants like this one move a probability slightly and, on their own, rarely decide anything about one person. Nothing on this page is a diagnosis, and health decisions should be made with a clinician who can see your whole picture.

Where does the information about rs587779329 come from?

ClinVar VCV000091307, reviewed by expert panel. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

Quoting this page

Licensed CC BY-NC 4.0: free to read, share and adapt for non-commercial use, naming MyGeneLog™ and linking the exact page. Commercial use, including training or serving a commercial AI system, needs a licence — https://www.mygenelog.com/license

Lynch syndrome (rs587779329). MyGeneLog™. https://www.mygenelog.com/variants/rs587779329

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