Sensitive

KBG syndrome

ANKRD11 · rs1057518663

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 Pathogenic; criteria provided, single submitter (1 of 4 stars, 1 submitter), last evaluated 2019-02-18. ClinVar record 816977 NM_013275.6(ANKRD11):c.3122C>G (p.Ser1041Ter)

Classification Pathogenic for KBG syndrome; no assertion criteria provided (0 of 4 stars, 1 submitter), last evaluated 2016-05-01. ClinVar record 374273 NM_013275.6(ANKRD11):c.3122C>A (p.Ser1041Ter)

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

G/G No copy of the version ClinVar lists as disease-causing for KBG syndrome. This is the usual result. This call was sent to ClinVar without the lab's criteria, the least certain kind of record, so it may change. (ClinVar VCV000374273, no assertion criteria provided)

G/T One copy of the version ClinVar lists as disease-causing for KBG 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. This call was sent to ClinVar without the lab's criteria, the least certain kind of record, so it may change. (ClinVar VCV000374273, no assertion criteria provided)

T/T Two copies of the version ClinVar lists as disease-causing for KBG 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. This call was sent to ClinVar without the lab's criteria, the least certain kind of record, so it may change. (ClinVar VCV000374273, no assertion criteria provided)

Source: ClinVar VCV000374273, no assertion criteria provided

Questions about rs1057518663

What is rs1057518663?

rs1057518663 is a single position in the genome, in or near the ANKRD11 gene. Published research associates it with kbg syndrome. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs1057518663 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 rs1057518663 come from?

ClinVar VCV000374273, no assertion criteria provided. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

Quoting this page

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KBG syndrome (rs1057518663). MyGeneLog™. https://www.mygenelog.com/variants/rs1057518663

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