Sensitive

PTEN hamartoma tumor syndrome

PTEN · rs786204927

Stands on its own. Nothing else here links to this position yet — but the page above is the point: what the research found, what each genotype means, and where it came from, in language you can read. Links to conditions, drugs and the senses appear automatically if we write them.

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/Likely pathogenic for PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome, Cowden syndrome 1, PTEN-related disorder; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 4 submitters), last evaluated 2025-10-12. ClinVar record 646993 NM_000314.8(PTEN):c.277C>T (p.His93Tyr)

Classification Likely pathogenic for Macrocephaly, Large for gestational age, Loss of consciousness, Triple-negative breast cancer; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 2 submitters), last evaluated 2023-06-01. ClinVar record 523356 NM_000314.8(PTEN):c.277C>A (p.His93Asn)

Classification Likely pathogenic for PTEN hamartoma tumor syndrome; criteria provided, single submitter (1 of 4 stars, 1 submitter), last evaluated 2023-03-23. ClinVar record 189482 NM_000314.8(PTEN):c.277C>G (p.His93Asp)

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 likely disease-causing for PTEN hamartoma tumor syndrome. This is the usual result. So far only one lab has made this call, so it may change. (ClinVar VCV000189482, criteria provided, single submitter)

C/G One copy of the version ClinVar lists as likely disease-causing for PTEN hamartoma tumor 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. So far only one lab has made this call, so it may change. (ClinVar VCV000189482, criteria provided, single submitter)

G/G Two copies of the version ClinVar lists as likely disease-causing for PTEN hamartoma tumor 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. So far only one lab has made this call, so it may change. (ClinVar VCV000189482, criteria provided, single submitter)

Source: ClinVar VCV000189482, criteria provided, single submitter

Questions about rs786204927

What is rs786204927?

rs786204927 is a single position in the genome, in or near the PTEN gene. Published research associates it with pten hamartoma tumor syndrome. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs786204927 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 rs786204927 come from?

ClinVar VCV000189482, criteria provided, single submitter. 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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PTEN hamartoma tumor syndrome (rs786204927). MyGeneLog™. https://www.mygenelog.com/variants/rs786204927

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