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Asparaginase hypersensitivity in acute lymphoblastic leukemia

NFATC2 · rs6021191

Where this position leads

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10⁻⁷, with 1 associations in the GWAS Catalog.

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 the study found

Who was studied 3,126 child cases; replicated in 182 child cases.

The effect Each copy of the T allele carried 3.11 times the odds of Asparaginase hypersensitivity in acute lymphoblastic leukemia (95% confidence interval -); p = 4 × 10⁻⁸.

Where it sits Chromosome 20, band 20q13.2 — in an intron of NFATC2.

How common each version is

AT

Korean KRGDB

A 87.8% · T 12.2%

Korean Korea4K

A 88.3% · T 11.7%

Japanese ToMMo

A 91.0% · T 9.0%

Vietnamese

A 90.7% · T 9.3%

World gnomAD

A 95.1% · T 4.9%

World 1000 Genomes

A 92.2% · T 7.8%

World TOPMed

A 94.2% · T 5.8%

The share of all copies of this position that are each version. Source: the population studies published in dbSNP (US NCBI); each row names its study.

What each result means

A/A No copy of the version the research linked to Asparaginase hypersensitivity in acute lymphoblastic leukemia. This is the starting point the study compared everyone against.

A/T One copy of the version the research linked to Asparaginase hypersensitivity in acute lymphoblastic leukemia. That is a smaller link than two copies.

T/T Two copies of the version the research linked to Asparaginase hypersensitivity in acute lymphoblastic leukemia. That is the strongest link of the three results. A link in a study is not a diagnosis.

Source

Genome-wide analysis links NFATC2 with asparaginase hypersensitivity

Fernandez CA, Smith C, Yang W, Mullighan CG, Qu C, Larsen E, Bowman WP, Liu C, Ramsey LB, Chang T, Karol SE, Loh ML

and 9 more — show all

Raetz EA, Winick NJ, Hunger SP, Carroll WL, Jeha S, Pui CH, Evans WE, Devidas M, Relling MV

Blood · 2015 · PMID 25987655

Questions about rs6021191

What is rs6021191?

rs6021191 is a single position in the genome, in or near the NFATC2 gene. Published research associates it with asparaginase hypersensitivity in acute lymphoblastic leukemia. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs6021191 linked to?

On MyGeneLog this position is linked to Acute Lymphoblastic Leukemia. The research behind each link, and its sources, are set out on that condition page.

Does having rs6021191 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 rs6021191 come from?

GWAS Catalog, Blood 2015, PMID:25987655. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

Quoting this page

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

Asparaginase hypersensitivity in acute lymphoblastic leukemia (rs6021191). MyGeneLog™. https://www.mygenelog.com/variants/rs6021191

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