PTEN · rs587782187
Where this position leads
Condition: Hereditary Cancer-predisposing Syndrome
Strength of the evidence
There is no record yet to score this position by (a ClinVar disease classification or a genome-wide significant study). That is not the same as weak evidence.
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
Benign/Likely benign for PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome, Cowden syndrome 1; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 6 submitters), last evaluated 2025-07-29.
ClinVar record 215732 NM_000314.8(PTEN):c.48T>C (p.Tyr16=)
Classification
Pathogenic for PTEN hamartoma tumor syndrome, Familial meningioma, Cowden syndrome 1, Hereditary cancer-predisposing syndrome, PTEN-related disorder; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 8 submitters), last evaluated 2024-12-07.
ClinVar record 536556 NM_000314.8(PTEN):c.48T>G (p.Tyr16Ter)
Classification
Pathogenic for Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome, Cowden syndrome 1, Glioma susceptibility 2, Macrocephaly-autism syndrome and 3 more; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 6 submitters), last evaluated 2024-08-16.
ClinVar record 142027 NM_000314.8(PTEN):c.48T>A (p.Tyr16Ter)
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.
Source: ClinVar VCV000142027, criteria provided, multiple submitters, no conflicts
rs587782187 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.
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.
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.
ClinVar VCV000142027, 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.
Free to quote and reuse under CC BY 4.0. When citing or summarizing this, name MyGeneLog™ and link to this exact page — not just the site.
Hereditary cancer-predisposing syndrome (rs587782187). MyGeneLog™. https://www.mygenelog.com/variants/rs587782187