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Hereditary cancer-predisposing syndrome

PTEN · rs587782343

Where this position leads

Condition: Hereditary Cancer-predisposing Syndrome

rs587782343 Condition: Hereditary Cancer-predisposing Syndrome Hereditary Cancer-predisposing Syndrome Condition rs587782343 rs587782343 PTEN

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 Pathogenic for Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome; reviewed by expert panel (3 of 4 stars, 7 submitters), last evaluated 2025-12-05. ClinVar record 142261 NM_000314.8(PTEN):c.314G>A (p.Cys105Tyr)

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 Two copies of the version ClinVar lists as disease-causing for Hereditary cancer-predisposing 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 VCV000142261, reviewed by expert panel)
A/G One copy of the version ClinVar lists as disease-causing for Hereditary cancer-predisposing 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 VCV000142261, reviewed by expert panel)
G/G No copy of the version ClinVar lists as disease-causing for Hereditary cancer-predisposing syndrome. This is the usual result. (ClinVar VCV000142261, reviewed by expert panel)

Source: ClinVar VCV000142261, reviewed by expert panel

Questions about rs587782343

What is rs587782343?

rs587782343 is a single position in the genome, in or near the PTEN gene. Published research associates it with hereditary cancer-predisposing syndrome. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs587782343 linked to?

On MyGeneLog this position is linked to Hereditary Cancer-predisposing Syndrome. The research behind each link, and its sources, are set out on that condition page.

Does having rs587782343 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 rs587782343 come from?

ClinVar VCV000142261, 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

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Hereditary cancer-predisposing syndrome (rs587782343). MyGeneLog™. https://www.mygenelog.com/variants/rs587782343

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