Sensitive

SHORT syndrome

PIK3R1 · rs2530954124

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

2 / 4

ClinVar classifies it as disease-causing (or likely), reviewed at 1 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 SHORT syndrome, Agammaglobulinemia 7, autosomal recessive, Immunodeficiency 36 with lymphoproliferation; criteria provided, single submitter (1 of 4 stars, 1 submitter), last evaluated 2024-05-28. ClinVar record 2029429 NM_181523.3(PIK3R1):c.916+2T>C

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 Two copies of the version ClinVar lists as likely disease-causing for SHORT 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 VCV002029429, criteria provided, single submitter)

C/T One copy of the version ClinVar lists as likely disease-causing for SHORT 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 VCV002029429, criteria provided, single submitter)

T/T No copy of the version ClinVar lists as likely disease-causing for SHORT syndrome. This is the usual result. So far only one lab has made this call, so it may change. (ClinVar VCV002029429, criteria provided, single submitter)

Source: ClinVar VCV002029429, criteria provided, single submitter

Questions about rs2530954124

What is rs2530954124?

rs2530954124 is a single position in the genome, in or near the PIK3R1 gene. Published research associates it with short syndrome. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs2530954124 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 rs2530954124 come from?

ClinVar VCV002029429, 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

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.

SHORT syndrome (rs2530954124). MyGeneLog™. https://www.mygenelog.com/variants/rs2530954124

← See all variants