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Autism spectrum disorder

SHANK2 · rs2134275196

Where this position leads

Condition: Autism Spectrum Disorder and Schizophrenia (Shared Genetic Risk)

rs2134275196 Condition: Autism Spectrum Disorder and Schizophrenia (Shared Genetic Risk) Autism Spectrum Disorder and Schizo… Condition rs2134275196 rs2134275196 SHANK2

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 Autism spectrum disorder, Rare disease with autism; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 3 submitters), last evaluated 2025-07-26. ClinVar record 1339926 NM_012309.5(SHANK2):c.1924C>T (p.Arg642Ter)

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 Two copies of the version ClinVar lists as disease-causing for Autism spectrum disorder. 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 VCV001339926, criteria provided, multiple submitters, no conflicts)
A/G One copy of the version ClinVar lists as disease-causing for Autism spectrum disorder. 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 VCV001339926, criteria provided, multiple submitters, no conflicts)
G/G No copy of the version ClinVar lists as disease-causing for Autism spectrum disorder. This is the usual result. (ClinVar VCV001339926, criteria provided, multiple submitters, no conflicts)

Source: ClinVar VCV001339926, criteria provided, multiple submitters, no conflicts

Questions about rs2134275196

What is rs2134275196?

rs2134275196 is a single position in the genome, in or near the SHANK2 gene. Published research associates it with autism spectrum disorder. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs2134275196 linked to?

On MyGeneLog this position is linked to Autism Spectrum Disorder and Schizophrenia (Shared Genetic Risk). The research behind each link, and its sources, are set out on that condition page.

Does having rs2134275196 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 rs2134275196 come from?

ClinVar VCV001339926, 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

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.

Autism spectrum disorder (rs2134275196). MyGeneLog™. https://www.mygenelog.com/variants/rs2134275196

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