Sensitive

PTEN hamartoma tumor syndrome

PTEN · rs1859093459

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 PTEN hamartoma tumor syndrome; reviewed by expert panel (3 of 4 stars, 4 submitters), last evaluated 2023-08-04. ClinVar record 943637 NM_000314.8(PTEN):c.91A>G (p.Asn31Asp)

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 PTEN hamartoma tumor syndrome. This is the usual result. (ClinVar VCV000943637, reviewed by expert panel)
A/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. (ClinVar VCV000943637, reviewed by expert panel)
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. (ClinVar VCV000943637, reviewed by expert panel)

Source: ClinVar VCV000943637, reviewed by expert panel

Questions about rs1859093459

What is rs1859093459?

rs1859093459 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 rs1859093459 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 rs1859093459 come from?

ClinVar VCV000943637, 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

PTEN hamartoma tumor syndrome (rs1859093459). MyGeneLog™. https://www.mygenelog.com/variants/rs1859093459

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