PTEN · rs397514560
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
ClinVar classifies it as disease-causing (or likely), reviewed at 3 of 4 stars.
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 Macrocephaly-autism syndrome, PTEN hamartoma tumor syndrome, Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype; reviewed by expert panel (3 of 4 stars, 4 submitters), last evaluated 2018-11-28.
ClinVar record 39669 NM_000314.8(PTEN):c.392C>T (p.Thr131Ile)
Classification
Uncertain significance for Macrocephaly-autism syndrome, PTEN hamartoma tumor syndrome; criteria provided, single submitter (1 of 4 stars, 2 submitters), last evaluated 2023-08-30.
ClinVar record 2443991 NM_000314.8(PTEN):c.392C>A (p.Thr131Asn)
Classification
Uncertain significance for Hereditary cancer-predisposing syndrome; criteria provided, single submitter (1 of 4 stars, 1 submitter), last evaluated 2016-02-05.
ClinVar record 482073 NM_000314.8(PTEN):c.392C>G (p.Thr131Ser)
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 VCV000039669, reviewed by expert panel
rs397514560 is a single position in the genome, in or near the PTEN gene. Published research associates it with macrocephaly-autism syndrome. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
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 VCV000039669, 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.
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
Macrocephaly-autism syndrome (rs397514560). MyGeneLog™. https://www.mygenelog.com/variants/rs397514560