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Hereditary cancer-predisposing syndrome

PTEN · rs786202733

Where this position leads

Condition: Hereditary Cancer-predisposing Syndrome

rs786202733 Condition: Hereditary Cancer-predisposing Syndrome Hereditary Cancer-predisposing Syndrome Condition rs786202733 rs786202733 PTEN

Strength of the evidence

3 / 4

ClinVar classifies it as disease-causing (or likely), reviewed at 2 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 PTEN hamartoma tumor syndrome, Cowden syndrome 1, Hereditary cancer-predisposing syndrome; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 3 submitters), last evaluated 2025-08-05. ClinVar record 2136910 NM_000314.8(PTEN):c.540C>A (p.Tyr180Ter)

Classification Likely benign for Hereditary cancer-predisposing syndrome; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 2 submitters), last evaluated 2025-03-04. ClinVar record 1697363 NM_000314.8(PTEN):c.540C>T (p.Tyr180=)

Classification Pathogenic for Hereditary cancer-predisposing syndrome, Cowden syndrome 1, PTEN hamartoma tumor syndrome; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 4 submitters), last evaluated 2024-08-19. ClinVar record 186153 NM_000314.8(PTEN):c.540C>G (p.Tyr180Ter)

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

C/C No copy of the version ClinVar lists as disease-causing for Hereditary cancer-predisposing syndrome. This is the usual result. (ClinVar VCV000186153, criteria provided, multiple submitters, no conflicts)
C/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 VCV000186153, criteria provided, multiple submitters, no conflicts)
G/G 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 VCV000186153, criteria provided, multiple submitters, no conflicts)

Source: ClinVar VCV000186153, criteria provided, multiple submitters, no conflicts

Questions about rs786202733

What is rs786202733?

rs786202733 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 rs786202733 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 rs786202733 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 rs786202733 come from?

ClinVar VCV000186153, criteria provided, multiple submitters, no conflicts. 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

Hereditary cancer-predisposing syndrome (rs786202733). MyGeneLog™. https://www.mygenelog.com/variants/rs786202733

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